19-50203964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50203964
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50203964
    reference: chr 19
allele count: 6
allele frequency: 4.978178982128338e-5
allele num: 120526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*219G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.613G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-610G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-610G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.305G>A
  hgvsp: ENSP00000376303.4:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.305G>A
  hgvsp: ENSP00000319343.4:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.305G>A
  hgvsp: ENSP00000346138.5:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.305G>A
  hgvsp: ENSP00000384465.2:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.305G>A
  hgvsp: ENSP00000470221.1:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-610G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.305G>A
  hgvsp: ENSP00000473028.1:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.305G>A
  hgvsp: ENSP00000471579.1:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg102Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

19-50203965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50203965
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50203965
    reference: chr 19
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.614G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-609G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.306G>A
  hgvsp: ENST00000598396.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.306G>A
  hgvsp: ENST00000598293.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.306G>A
  hgvsp: ENST00000594587.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.306G>A
  hgvsp: ENST00000323446.5:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.306G>A
  hgvsp: ENST00000405931.2:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.306G>A
  hgvsp: ENST00000392518.4:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.306G>A
  hgvsp: ENST00000354199.5:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-609G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-609G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*220G>A
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg102Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

19-50203968-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50203968
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50203968
    reference: chr 19
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*223G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.309G>C
  hgvsp: ENST00000598396.1:c.309G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.617G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.309G>C
  hgvsp: ENST00000354199.5:c.309G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-606G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.309G>C
  hgvsp: ENST00000598293.1:c.309G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.309G>C
  hgvsp: ENST00000323446.5:c.309G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.309G>C
  hgvsp: ENST00000405931.2:c.309G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-606G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-606G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.309G>C
  hgvsp: ENST00000392518.4:c.309G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.309G>C
  hgvsp: ENST00000594587.1:c.309G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly103Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-50203969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50203969
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50203969
    reference: chr 19
allele count: 5
allele frequency: 4.139209907612835e-5
allele num: 120796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.310G>A
  hgvsp: ENSP00000471579.1:p.Val104Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-605G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.310G>A
  hgvsp: ENSP00000319343.4:p.Val104Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.310G>A
  hgvsp: ENSP00000470221.1:p.Val104Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.310G>A
  hgvsp: ENSP00000376303.4:p.Val104Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*224G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-605G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.618G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.310G>A
  hgvsp: ENSP00000346138.5:p.Val104Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.310G>A
  hgvsp: ENSP00000473028.1:p.Val104Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.310G>A
  hgvsp: ENSP00000384465.2:p.Val104Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-605G>A
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val104Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

19-50203969-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50203969
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50203969
    reference: chr 19
allele count: 4
allele frequency: 3.311367926090268e-5
allele num: 120796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.310G>T
  hgvsp: ENSP00000471579.1:p.Val104Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.310G>T
  hgvsp: ENSP00000473028.1:p.Val104Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*224G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.310G>T
  hgvsp: ENSP00000319343.4:p.Val104Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-605G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.310G>T
  hgvsp: ENSP00000470221.1:p.Val104Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-605G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.310G>T
  hgvsp: ENSP00000376303.4:p.Val104Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.310G>T
  hgvsp: ENSP00000384465.2:p.Val104Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.310G>T
  hgvsp: ENSP00000346138.5:p.Val104Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-605G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.618G>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val104Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

19-50203980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50203980
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50203980
    reference: chr 19
allele count: 39
allele frequency: 3.221702711186743e-4
allele num: 121054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.321C>T
  hgvsp: ENST00000598396.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.629C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.321C>T
  hgvsp: ENST00000405931.2:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.321C>T
  hgvsp: ENST00000594587.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-594C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.321C>T
  hgvsp: ENST00000598293.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.321C>T
  hgvsp: ENST00000392518.4:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.321C>T
  hgvsp: ENST00000323446.5:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-594C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.321C>T
  hgvsp: ENST00000354199.5:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-594C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*235C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala107Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

19-50203983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50203983
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50203983
    reference: chr 19
allele count: 3
allele frequency: 2.477086945751796e-5
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.324G>A
  hgvsp: ENST00000323446.5:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.324G>A
  hgvsp: ENST00000354199.5:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*238G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.324G>A
  hgvsp: ENST00000594587.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.324G>A
  hgvsp: ENST00000405931.2:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-591G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.324G>A
  hgvsp: ENST00000598396.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.632G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-591G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.324G>A
  hgvsp: ENST00000392518.4:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-591G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.324G>A
  hgvsp: ENST00000598293.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ala108Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

19-50203984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50203984
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50203984
    reference: chr 19
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.325C>T
  hgvsp: ENST00000405931.2:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.325C>T
  hgvsp: ENST00000594587.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.325C>T
  hgvsp: ENST00000354199.5:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-590C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-590C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.325C>T
  hgvsp: ENST00000323446.5:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.325C>T
  hgvsp: ENST00000598293.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.325C>T
  hgvsp: ENST00000392518.4:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*239C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-590C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.325C>T
  hgvsp: ENST00000598396.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.633C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu109Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

19-50203986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50203986
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50203986
    reference: chr 19
allele count: 2
allele frequency: 1.650900566258894e-5
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-588G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*241G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.327G>A
  hgvsp: ENST00000354199.5:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.327G>A
  hgvsp: ENST00000392518.4:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.327G>A
  hgvsp: ENST00000594587.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.327G>A
  hgvsp: ENST00000598396.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.327G>A
  hgvsp: ENST00000323446.5:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.327G>A
  hgvsp: ENST00000405931.2:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.327G>A
  hgvsp: ENST00000598293.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.635G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-588G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-588G>A
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu109Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-50203992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50203992
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50203992
    reference: chr 19
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.333C>T
  hgvsp: ENST00000354199.5:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.333C>T
  hgvsp: ENST00000594587.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.333C>T
  hgvsp: ENST00000598396.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-582C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*247C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.333C>T
  hgvsp: ENST00000323446.5:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.641C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-582C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.333C>T
  hgvsp: ENST00000405931.2:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.333C>T
  hgvsp: ENST00000392518.4:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-582C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.333C>T
  hgvsp: ENST00000598293.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala111Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

19-50203995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50203995
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50203995
    reference: chr 19
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-579G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-579G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*250G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.336G>A
  hgvsp: ENST00000354199.5:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.336G>A
  hgvsp: ENST00000323446.5:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.336G>A
  hgvsp: ENST00000405931.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-579G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.336G>A
  hgvsp: ENST00000392518.4:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.336G>A
  hgvsp: ENST00000594587.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.336G>A
  hgvsp: ENST00000598293.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.644G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.336G>A
  hgvsp: ENST00000598396.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser112Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-50204004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204004
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204004
    reference: chr 19
allele count: 10
allele frequency: 8.248919391559706e-5
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-570G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.345G>A
  hgvsp: ENSP00000376303.4:p.Trp115Ter
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.345G>A
  hgvsp: ENSP00000346138.5:p.Trp115Ter
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-570G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-570G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.345G>A
  hgvsp: ENSP00000471579.1:p.Trp115Ter
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.345G>A
  hgvsp: ENSP00000384465.2:p.Trp115Ter
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.653G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.345G>A
  hgvsp: ENSP00000473028.1:p.Trp115Ter
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.345G>A
  hgvsp: ENSP00000470221.1:p.Trp115Ter
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*259G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.345G>A
  hgvsp: ENSP00000319343.4:p.Trp115Ter
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp115Ter
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-50204009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204009
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204009
    reference: chr 19
allele count: 3
allele frequency: 2.474104374216534e-5
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.350C>T
  hgvsp: ENSP00000319343.4:p.Ala117Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.350C>T
  hgvsp: ENSP00000473028.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.350C>T
  hgvsp: ENSP00000376303.4:p.Ala117Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.350C>T
  hgvsp: ENSP00000470221.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.350C>T
  hgvsp: ENSP00000346138.5:p.Ala117Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.350C>T
  hgvsp: ENSP00000471579.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-565C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.658C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.350C>T
  hgvsp: ENSP00000384465.2:p.Ala117Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*264C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-565C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-565C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala117Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

19-50204029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204029
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204029
    reference: chr 19
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-545G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.370G>A
  hgvsp: ENSP00000319343.4:p.Val124Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*284G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-545G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.370G>A
  hgvsp: ENSP00000473028.1:p.Val124Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-545G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.678G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.370G>A
  hgvsp: ENSP00000376303.4:p.Val124Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.370G>A
  hgvsp: ENSP00000384465.2:p.Val124Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.370G>A
  hgvsp: ENSP00000470221.1:p.Val124Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.370G>A
  hgvsp: ENSP00000471579.1:p.Val124Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.370G>A
  hgvsp: ENSP00000346138.5:p.Val124Met
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val124Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

19-50204037-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204037
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204037
    reference: chr 19
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.378G>T
  hgvsp: ENST00000392518.4:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-537G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.378G>T
  hgvsp: ENST00000323446.5:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.378G>T
  hgvsp: ENST00000405931.2:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.378G>T
  hgvsp: ENST00000594587.1:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-537G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.686G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.378G>T
  hgvsp: ENST00000598396.1:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.378G>T
  hgvsp: ENST00000354199.5:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.378G>T
  hgvsp: ENST00000598293.1:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*292G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-537G>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu126Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

19-50204042-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204042
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204042
    reference: chr 19
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.383T>C
  hgvsp: ENSP00000471579.1:p.Leu128Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.383T>C
  hgvsp: ENSP00000473028.1:p.Leu128Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.383T>C
  hgvsp: ENSP00000319343.4:p.Leu128Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.383T>C
  hgvsp: ENSP00000470221.1:p.Leu128Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.383T>C
  hgvsp: ENSP00000346138.5:p.Leu128Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-532T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-532T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.383T>C
  hgvsp: ENSP00000376303.4:p.Leu128Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.383T>C
  hgvsp: ENSP00000384465.2:p.Leu128Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*297T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-532T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.691T>C
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu128Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

19-50204043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204043
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204043
    reference: chr 19
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.384G>A
  hgvsp: ENST00000405931.2:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.384G>A
  hgvsp: ENST00000598293.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.692G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.384G>A
  hgvsp: ENST00000594587.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*298G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.384G>A
  hgvsp: ENST00000323446.5:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.384G>A
  hgvsp: ENST00000354199.5:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-531G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-531G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-531G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.384G>A
  hgvsp: ENST00000598396.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.384G>A
  hgvsp: ENST00000392518.4:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu128Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

19-50204043-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204043
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204043
    reference: chr 19
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.384G>C
  hgvsp: ENST00000354199.5:c.384G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.384G>C
  hgvsp: ENST00000392518.4:c.384G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.384G>C
  hgvsp: ENST00000594587.1:c.384G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.692G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-531G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.384G>C
  hgvsp: ENST00000598293.1:c.384G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-531G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.384G>C
  hgvsp: ENST00000405931.2:c.384G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.384G>C
  hgvsp: ENST00000323446.5:c.384G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*298G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.384G>C
  hgvsp: ENST00000598396.1:c.384G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-531G>C
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu128Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

19-50204047-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204047
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204047
    reference: chr 19
allele count: 4
allele frequency: 3.298207424264912e-5
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.388C>G
  hgvsp: ENSP00000376303.4:p.Leu130Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.388C>G
  hgvsp: ENSP00000319343.4:p.Leu130Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-527C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.388C>G
  hgvsp: ENSP00000470221.1:p.Leu130Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.696C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.388C>G
  hgvsp: ENSP00000473028.1:p.Leu130Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.388C>G
  hgvsp: ENSP00000471579.1:p.Leu130Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.388C>G
  hgvsp: ENSP00000384465.2:p.Leu130Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-527C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.388C>G
  hgvsp: ENSP00000346138.5:p.Leu130Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-527C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*302C>G
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu130Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

19-50204048-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204048
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204048
    reference: chr 19
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.389T>C
  hgvsp: ENSP00000319343.4:p.Leu130Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-526T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.697T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.389T>C
  hgvsp: ENSP00000346138.5:p.Leu130Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.389T>C
  hgvsp: ENSP00000376303.4:p.Leu130Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.389T>C
  hgvsp: ENSP00000384465.2:p.Leu130Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-526T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.389T>C
  hgvsp: ENSP00000473028.1:p.Leu130Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*303T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.389T>C
  hgvsp: ENSP00000471579.1:p.Leu130Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.389T>C
  hgvsp: ENSP00000470221.1:p.Leu130Pro
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-526T>C
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu130Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

19-50204049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204049
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204049
    reference: chr 19
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.698G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.390G>A
  hgvsp: ENST00000594587.1:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*304G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.390G>A
  hgvsp: ENST00000598396.1:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.390G>A
  hgvsp: ENST00000598293.1:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.390G>A
  hgvsp: ENST00000323446.5:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.390G>A
  hgvsp: ENST00000405931.2:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.390G>A
  hgvsp: ENST00000354199.5:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-525G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.390G>A
  hgvsp: ENST00000392518.4:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-525G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-525G>A
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu130Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

19-50204051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204051
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204051
    reference: chr 19
allele count: 8
allele frequency: 6.596958801992281e-5
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.392C>T
  hgvsp: ENSP00000376303.4:p.Ser131Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.392C>T
  hgvsp: ENSP00000384465.2:p.Ser131Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.392C>T
  hgvsp: ENSP00000319343.4:p.Ser131Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.392C>T
  hgvsp: ENSP00000470221.1:p.Ser131Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*306C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-523C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-523C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.392C>T
  hgvsp: ENSP00000346138.5:p.Ser131Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.392C>T
  hgvsp: ENSP00000473028.1:p.Ser131Phe
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-523C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.700C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.392C>T
  hgvsp: ENSP00000471579.1:p.Ser131Phe
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser131Phe
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-50204052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204052
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204052
    reference: chr 19
allele count: 2
allele frequency: 1.649375711293276e-5
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-522C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.393C>T
  hgvsp: ENST00000354199.5:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.393C>T
  hgvsp: ENST00000392518.4:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-522C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.393C>T
  hgvsp: ENST00000598293.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.393C>T
  hgvsp: ENST00000594587.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.393C>T
  hgvsp: ENST00000598396.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.393C>T
  hgvsp: ENST00000405931.2:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.701C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-522C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.393C>T
  hgvsp: ENST00000323446.5:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*307C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser131Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

19-50204057-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204057
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204057
    reference: chr 19
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.706A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.398A>T
  hgvsp: ENSP00000384465.2:p.His133Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*312A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.398A>T
  hgvsp: ENSP00000473028.1:p.His133Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.398A>T
  hgvsp: ENSP00000376303.4:p.His133Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-517A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.398A>T
  hgvsp: ENSP00000319343.4:p.His133Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-517A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-517A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.398A>T
  hgvsp: ENSP00000470221.1:p.His133Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.398A>T
  hgvsp: ENSP00000471579.1:p.His133Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.398A>T
  hgvsp: ENSP00000346138.5:p.His133Leu
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His133Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-50204058-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204058
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204058
    reference: chr 19
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-516C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-516C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-516C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.707C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.399C>G
  hgvsp: ENSP00000346138.5:p.His133Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*313C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.399C>G
  hgvsp: ENSP00000319343.4:p.His133Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.399C>G
  hgvsp: ENSP00000384465.2:p.His133Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.399C>G
  hgvsp: ENSP00000471579.1:p.His133Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.399C>G
  hgvsp: ENSP00000376303.4:p.His133Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.399C>G
  hgvsp: ENSP00000473028.1:p.His133Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.399C>G
  hgvsp: ENSP00000470221.1:p.His133Gln
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His133Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-50204059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204059
    reference: chr 19
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.400G>A
  hgvsp: ENSP00000473028.1:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.400G>A
  hgvsp: ENSP00000471579.1:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-515G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.400G>A
  hgvsp: ENSP00000470221.1:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.400G>A
  hgvsp: ENSP00000319343.4:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.400G>A
  hgvsp: ENSP00000346138.5:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*314G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.400G>A
  hgvsp: ENSP00000384465.2:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-515G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.708G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.400G>A
  hgvsp: ENSP00000376303.4:p.Gly134Ser
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-515G>A
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly134Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

19-50204059-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204059
    reference: chr 19
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*314G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.708G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.400G>C
  hgvsp: ENSP00000346138.5:p.Gly134Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-515G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.400G>C
  hgvsp: ENSP00000470221.1:p.Gly134Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.400G>C
  hgvsp: ENSP00000384465.2:p.Gly134Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.400G>C
  hgvsp: ENSP00000473028.1:p.Gly134Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.400G>C
  hgvsp: ENSP00000319343.4:p.Gly134Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-515G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-515G>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.400G>C
  hgvsp: ENSP00000376303.4:p.Gly134Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.400G>C
  hgvsp: ENSP00000471579.1:p.Gly134Arg
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly134Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

19-50204067-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204067
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204067
    reference: chr 19
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.408T>A
  hgvsp: ENST00000594587.1:c.408T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.408T>A
  hgvsp: ENST00000598293.1:c.408T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-507T>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*322T>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.408T>A
  hgvsp: ENST00000323446.5:c.408T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-507T>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.408T>A
  hgvsp: ENST00000392518.4:c.408T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.408T>A
  hgvsp: ENST00000354199.5:c.408T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.716T>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.408T>A
  hgvsp: ENST00000405931.2:c.408T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-507T>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.408T>A
  hgvsp: ENST00000598396.1:c.408T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu136Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

19-50204071-G-GAGCCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204071
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204077
    reference: chr 19
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: GAGCCCC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*328_*333dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.414_419dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-501_429-496dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.722_727dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.414_419dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.414_419dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.414_419dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.414_419dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.414_419dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-501_282-496dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-501_*4-496dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.414_419dupGCCCCA
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro139_His140insGlnPro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

19-50204076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204076
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204076
    reference: chr 19
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.417C>T
  hgvsp: ENST00000354199.5:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.725C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.417C>T
  hgvsp: ENST00000594587.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.417C>T
  hgvsp: ENST00000405931.2:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.417C>T
  hgvsp: ENST00000392518.4:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.417C>T
  hgvsp: ENST00000323446.5:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.417C>T
  hgvsp: ENST00000598293.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-498C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-498C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*331C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-498C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.417C>T
  hgvsp: ENST00000598396.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro139Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

19-50204079-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204079
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204079
    reference: chr 19
allele count: 17
allele frequency: 1.403821698128788e-4
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.420C>T
  hgvsp: ENST00000354199.5:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.420C>T
  hgvsp: ENST00000392518.4:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*334C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-495C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.420C>T
  hgvsp: ENST00000598396.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.420C>T
  hgvsp: ENST00000405931.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.420C>T
  hgvsp: ENST00000594587.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.420C>T
  hgvsp: ENST00000598293.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.420C>T
  hgvsp: ENST00000323446.5:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-495C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.728C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-495C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.His140His
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-50204079-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204079
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204079
    reference: chr 19
allele count: 2
allele frequency: 1.651554938975045e-5
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-495C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.728C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.420C>A
  hgvsp: ENSP00000471579.1:p.His140Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.420C>A
  hgvsp: ENSP00000319343.4:p.His140Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.420C>A
  hgvsp: ENSP00000346138.5:p.His140Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.420C>A
  hgvsp: ENSP00000384465.2:p.His140Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.420C>A
  hgvsp: ENSP00000376303.4:p.His140Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.420C>A
  hgvsp: ENSP00000473028.1:p.His140Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-495C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.420C>A
  hgvsp: ENSP00000470221.1:p.His140Gln
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-495C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*334C>A
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His140Gln
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

19-50204080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204080
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204080
    reference: chr 19
allele count: 11
allele frequency: 9.083552164362747e-5
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-494G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-494G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.421G>A
  hgvsp: ENSP00000346138.5:p.Gly141Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.421G>A
  hgvsp: ENSP00000473028.1:p.Gly141Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.421G>A
  hgvsp: ENSP00000319343.4:p.Gly141Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.729G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.421G>A
  hgvsp: ENSP00000470221.1:p.Gly141Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.421G>A
  hgvsp: ENSP00000384465.2:p.Gly141Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*335G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-494G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.421G>A
  hgvsp: ENSP00000471579.1:p.Gly141Arg
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.421G>A
  hgvsp: ENSP00000376303.4:p.Gly141Arg
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly141Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-50204091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204091
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204091
    reference: chr 19
allele count: 2
allele frequency: 1.652674026574998e-5
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-483C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.432C>T
  hgvsp: ENST00000594587.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.432C>T
  hgvsp: ENST00000323446.5:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.432C>T
  hgvsp: ENST00000598396.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-483C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*346C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.432C>T
  hgvsp: ENST00000392518.4:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.432C>T
  hgvsp: ENST00000405931.2:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.740C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.432C>T
  hgvsp: ENST00000598293.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-483C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.432C>T
  hgvsp: ENST00000354199.5:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser144Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

19-50204092-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204092
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204091
    reference: chr 19
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.438delC
  hgvsp: ENSP00000473028.1:p.Thr147ProfsTer64
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.438delC
  hgvsp: ENSP00000319343.4:p.Thr147ProfsTer64
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-477delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-477delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*352delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.746delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.438delC
  hgvsp: ENSP00000471579.1:p.Thr147ProfsTer?
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-477delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.438delC
  hgvsp: ENSP00000384465.2:p.Thr147ProfsTer64
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.438delC
  hgvsp: ENSP00000346138.5:p.Thr147ProfsTer64
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.438delC
  hgvsp: ENSP00000376303.4:p.Thr147ProfsTer64
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.438delC
  hgvsp: ENSP00000470221.1:p.Thr147ProfsTer64
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr147ProfsTer64
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: TC
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/19-50204097-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204097
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204097
    reference: chr 19
allele count: 3
allele frequency: 2.479830710223515e-5
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-477C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.438C>A
  hgvsp: ENST00000405931.2:c.438C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.438C>A
  hgvsp: ENST00000323446.5:c.438C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.438C>A
  hgvsp: ENST00000598293.1:c.438C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.438C>A
  hgvsp: ENST00000594587.1:c.438C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*352C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.438C>A
  hgvsp: ENST00000598396.1:c.438C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.438C>A
  hgvsp: ENST00000354199.5:c.438C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-477C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-477C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.746C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.438C>A
  hgvsp: ENST00000392518.4:c.438C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro146Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-50204097-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204097
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204097
    reference: chr 19
allele count: 3
allele frequency: 2.479830710223515e-5
allele num: 120976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.438C>G
  hgvsp: ENST00000405931.2:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.746C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.438C>G
  hgvsp: ENST00000598396.1:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.438C>G
  hgvsp: ENST00000598293.1:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*352C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.438C>G
  hgvsp: ENST00000594587.1:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.438C>G
  hgvsp: ENST00000354199.5:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.438C>G
  hgvsp: ENST00000323446.5:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-477C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.438C>G
  hgvsp: ENST00000392518.4:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-477C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-477C>G
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro146Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

19-50204105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204105
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204105
    reference: chr 19
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.446C>T
  hgvsp: ENSP00000319343.4:p.Thr149Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.446C>T
  hgvsp: ENSP00000384465.2:p.Thr149Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-469C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.446C>T
  hgvsp: ENSP00000471579.1:p.Thr149Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.446C>T
  hgvsp: ENSP00000470221.1:p.Thr149Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.446C>T
  hgvsp: ENSP00000376303.4:p.Thr149Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.754C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-469C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-469C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.446C>T
  hgvsp: ENSP00000473028.1:p.Thr149Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.446C>T
  hgvsp: ENSP00000346138.5:p.Thr149Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*360C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr149Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-50204110-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204110
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204110
    reference: chr 19
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.451C>A
  hgvsp: ENSP00000346138.5:p.Leu151Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.451C>A
  hgvsp: ENSP00000473028.1:p.Leu151Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-464C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-464C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.451C>A
  hgvsp: ENSP00000470221.1:p.Leu151Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.451C>A
  hgvsp: ENSP00000384465.2:p.Leu151Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.759C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.451C>A
  hgvsp: ENSP00000471579.1:p.Leu151Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.451C>A
  hgvsp: ENSP00000376303.4:p.Leu151Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.451C>A
  hgvsp: ENSP00000319343.4:p.Leu151Met
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-464C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*365C>A
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu151Met
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

19-50204112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204112
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204112
    reference: chr 19
allele count: 2
allele frequency: 1.655958137378287e-5
allele num: 120776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-462G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.453G>A
  hgvsp: ENST00000598396.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.453G>A
  hgvsp: ENST00000323446.5:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-462G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.453G>A
  hgvsp: ENST00000392518.4:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*367G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.453G>A
  hgvsp: ENST00000594587.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-462G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.761G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.453G>A
  hgvsp: ENST00000405931.2:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.453G>A
  hgvsp: ENST00000354199.5:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.453G>A
  hgvsp: ENST00000598293.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.453G>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-50204116-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204116
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204116
    reference: chr 19
allele count: 58
allele frequency: 4.803153518724018e-4
allele num: 120754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.453+4T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*367+4T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.453+4T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.453+4T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.761+4T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.453+4T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-458T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.453+4T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.453+4T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.453+4T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-458T>C
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-458T>C
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.453+4T>C
num of homozygotes: 2
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

19-50204126-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204126
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204126
    reference: chr 19
allele count: 1282
allele frequency: 1.063406217857261e-2
allele num: 120556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-448A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-448A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.453+14A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.453+14A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.453+14A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.453+14A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.453+14A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-448A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.453+14A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*367+14A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.453+14A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.761+14A>G
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 5.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 6.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 6.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 8.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 7.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 9.75e1
  variant carriers: 652
genotype quality: GenotypeQuality
num of homozygotes: 68
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

19-50204137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204137
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204137
    reference: chr 19
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.453+25C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.761+25C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*367+25C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.453+25C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.453+25C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-437C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.453+25C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-437C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.453+25C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.453+25C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-437C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.453+25C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

19-50204140-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204138
    reference: chr 19
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.453+32_453+33delTC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.453+32_453+33delTC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.453+32_453+33delTC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-430_*4-429delTC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-430_429-429delTC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.453+32_453+33delTC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.761+32_761+33delTC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.453+32_453+33delTC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-430_282-429delTC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.453+32_453+33delTC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*367+32_*367+33delTC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.453+32_453+33delTC
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: GCT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-50204146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204146
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204146
    reference: chr 19
allele count: 8
allele frequency: 6.666333349999167e-5
allele num: 120006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-428C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.761+34C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.453+34C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.453+34C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.453+34C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.453+34C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-428C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.453+34C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*367+34C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.453+34C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.453+34C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-428C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-50204152-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204152
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204152
    reference: chr 19
allele count: 1
allele frequency: 8.344041519950603e-6
allele num: 119846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-422C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.453+40C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.453+40C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.453+40C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.453+40C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*367+40C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.453+40C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-422C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-422C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.453+40C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.453+40C>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.761+40C>A
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-50204154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204154
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204154
    reference: chr 19
allele count: 3
allele frequency: 2.505386581149471e-5
allele num: 119742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-420C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*367+42C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-420C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.453+42C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-420C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.453+42C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.761+42C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.453+42C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.453+42C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.453+42C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.453+42C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.453+42C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-50204156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204156
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204156
    reference: chr 19
allele count: 10
allele frequency: 8.35435846881318e-5
allele num: 119698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.761+44C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.453+44C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.453+44C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-418C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.453+44C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.453+44C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.453+44C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.453+44C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-418C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-418C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*367+44C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.453+44C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

19-50204160-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204160
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204159
    reference: chr 19
allele count: 1
allele frequency: 8.364980844193866e-6
allele num: 119546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.453+49delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-413delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.453+49delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.453+49delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.453+49delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.761+49delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.453+49delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-413delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.453+49delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*367+49delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.453+49delC
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-413delC
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: TC
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-50204163-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204163
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204163
    reference: chr 19
allele count: 1
allele frequency: 8.372965369415233e-6
allele num: 119432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.761+51A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.453+51A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.453+51A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.453+51A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.453+51A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-411A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-411A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.453+51A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.453+51A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-411A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.453+51A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*367+51A>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

19-50204528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204528
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204528
    reference: chr 19
allele count: 1
allele frequency: 1.177273904546632e-5
allele num: 84942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.454-46C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.454-46C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.454-46C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.454-46C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*368-46C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-226C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.454-46C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-46C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-46C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.454-46C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.454-46C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-46C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11663
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

19-50204537-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204537
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204537
    reference: chr 19
allele count: 1
allele frequency: 1.159904423875473e-5
allele num: 86214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-37G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.454-37G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.454-37G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.454-37G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-37G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-37G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.454-37G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.454-37G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-217G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.454-37G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*368-37G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.454-37G>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-50204555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204555
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204555
    reference: chr 19
allele count: 2
allele frequency: 2.16192844016863e-5
allele num: 92510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.454-19G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.454-19G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.454-19G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.454-19G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-19G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-19G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-199G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-19G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*368-19G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.454-19G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.454-19G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.454-19G>A
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

19-50204559-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204559
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204559
    reference: chr 19
allele count: 1
allele frequency: 1.050221596756916e-5
allele num: 95218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.454-15A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.454-15A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-15A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-15A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.454-15A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.454-15A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.454-15A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-15A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.454-15A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.454-15A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-195A>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*368-15A>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-50204562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204562
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204562
    reference: chr 19
allele count: 1
allele frequency: 1.030609089972174e-5
allele num: 97030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.454-12C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-12C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.454-12C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-12C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.454-12C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*368-12C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.454-12C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.454-12C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.454-12C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-12C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-192C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.454-12C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

19-50204563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204563
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204563
    reference: chr 19
allele count: 9
allele frequency: 9.221311475409836e-5
allele num: 97600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.454-11C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.454-11C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.454-11C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*368-11C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.429-11C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.454-11C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.454-11C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-191C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.282-11C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.454-11C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.454-11C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*4-11C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29550
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-50204583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204583
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204583
    reference: chr 19
allele count: 1
allele frequency: 9.269558769002595e-6
allele num: 107880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-171C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.463C>T
  hgvsp: ENSP00000473028.1:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.463C>T
  hgvsp: ENSP00000319343.4:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.463C>T
  hgvsp: ENSP00000384465.2:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.438C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*377C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.463C>T
  hgvsp: ENSP00000471579.1:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.463C>T
  hgvsp: ENSP00000376303.4:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.463C>T
  hgvsp: ENSP00000470221.1:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.463C>T
  hgvsp: ENSP00000346138.5:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.291C>T
  hgvsp: ENST00000595969.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg155Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

19-50204584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204584
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204584
    reference: chr 19
allele count: 1
allele frequency: 9.249838127832764e-6
allele num: 108110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-170G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.292G>A
  hgvsp: ENSP00000472453.1:p.Ala98Thr
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.464G>A
  hgvsp: ENSP00000471579.1:p.Arg155His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.464G>A
  hgvsp: ENSP00000473028.1:p.Arg155His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.464G>A
  hgvsp: ENSP00000470221.1:p.Arg155His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.464G>A
  hgvsp: ENSP00000346138.5:p.Arg155His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.464G>A
  hgvsp: ENSP00000376303.4:p.Arg155His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.464G>A
  hgvsp: ENSP00000384465.2:p.Arg155His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*14G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.464G>A
  hgvsp: ENSP00000319343.4:p.Arg155His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*378G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.439G>A
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36510
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg155His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP

19-50204586-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204586
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204586
    reference: chr 19
allele count: 1
allele frequency: 9.152312789441891e-6
allele num: 109262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.466A>G
  hgvsp: ENSP00000473028.1:p.Ile156Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.466A>G
  hgvsp: ENSP00000319343.4:p.Ile156Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.466A>G
  hgvsp: ENSP00000470221.1:p.Ile156Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.466A>G
  hgvsp: ENSP00000346138.5:p.Ile156Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.466A>G
  hgvsp: ENSP00000384465.2:p.Ile156Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.466A>G
  hgvsp: ENSP00000471579.1:p.Ile156Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*16A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.441A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.466A>G
  hgvsp: ENSP00000376303.4:p.Ile156Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.294A>G
  hgvsp: ENST00000595969.1:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*380A>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-168A>G
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37075
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile156Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-50204600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204600
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204600
    reference: chr 19
allele count: 5
allele frequency: 4.430110575559966e-5
allele num: 112864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.480C>T
  hgvsp: ENST00000594587.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.480C>T
  hgvsp: ENST00000598396.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.308C>T
  hgvsp: ENSP00000472453.1:p.Ala103Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.480C>T
  hgvsp: ENST00000598293.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.480C>T
  hgvsp: ENST00000323446.5:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.480C>T
  hgvsp: ENST00000405931.2:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.455C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.480C>T
  hgvsp: ENST00000392518.4:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.480C>T
  hgvsp: ENST00000354199.5:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-154C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*394C>T
  variant of: http://identifiers.org/hgnc/18540
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38479
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala103Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

19-50204603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204603
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204603
    reference: chr 19
allele count: 2
allele frequency: 1.75923156765125e-5
allele num: 113686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-151C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.311C>T
  hgvsp: ENSP00000472453.1:p.Thr104Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.483C>T
  hgvsp: ENST00000598293.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.483C>T
  hgvsp: ENST00000594587.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.483C>T
  hgvsp: ENST00000405931.2:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.483C>T
  hgvsp: ENST00000323446.5:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.483C>T
  hgvsp: ENST00000392518.4:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.458C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.483C>T
  hgvsp: ENST00000354199.5:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*397C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.483C>T
  hgvsp: ENST00000598396.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12167
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr104Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

19-50204605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204605
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204605
    reference: chr 19
allele count: 4
allele frequency: 3.509079743837179e-5
allele num: 113990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.485C>T
  hgvsp: ENSP00000346138.5:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.485C>T
  hgvsp: ENSP00000473028.1:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.485C>T
  hgvsp: ENSP00000384465.2:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.313C>T
  hgvsp: ENSP00000472453.1:p.Arg105Ter
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.460C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.485C>T
  hgvsp: ENSP00000319343.4:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.485C>T
  hgvsp: ENSP00000470221.1:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.485C>T
  hgvsp: ENSP00000376303.4:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-149C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*399C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.485C>T
  hgvsp: ENSP00000471579.1:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/18540
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12278
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg105Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-50204609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204609
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204609
    reference: chr 19
allele count: 3
allele frequency: 2.619355289351447e-5
allele num: 114532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.489G>A
  hgvsp: ENSP00000319343.4:p.Met163Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.489G>A
  hgvsp: ENSP00000346138.5:p.Met163Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*403G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.489G>A
  hgvsp: ENSP00000384465.2:p.Met163Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.489G>A
  hgvsp: ENSP00000473028.1:p.Met163Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.489G>A
  hgvsp: ENSP00000470221.1:p.Met163Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*39G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.464G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.489G>A
  hgvsp: ENSP00000471579.1:p.Met163Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.489G>A
  hgvsp: ENSP00000376303.4:p.Met163Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-145G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.317G>A
  hgvsp: ENSP00000472453.1:p.Cys106Tyr
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met163Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

19-50204615-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204615
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204615
    reference: chr 19
allele count: 1
allele frequency: 8.707918981521795e-6
allele num: 114838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.495C>G
  hgvsp: ENSP00000470221.1:p.Phe165Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.323C>G
  hgvsp: ENSP00000472453.1:p.Ser108Ter
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.495C>G
  hgvsp: ENSP00000471579.1:p.Phe165Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.470C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.495C>G
  hgvsp: ENSP00000384465.2:p.Phe165Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-139C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.495C>G
  hgvsp: ENSP00000346138.5:p.Phe165Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.495C>G
  hgvsp: ENSP00000473028.1:p.Phe165Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.495C>G
  hgvsp: ENSP00000319343.4:p.Phe165Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.495C>G
  hgvsp: ENSP00000376303.4:p.Phe165Leu
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*409C>G
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*45C>G
  variant of: http://identifiers.org/hgnc/18540
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38611
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser108Ter
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

19-50204624-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204624
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204624
    reference: chr 19
allele count: 1
allele frequency: 8.719308035714285e-6
allele num: 114688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.332G>T
  hgvsp: ENSP00000472453.1:p.Ser111Ile
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-130G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.504G>T
  hgvsp: ENSP00000319343.4:p.Gln168His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.504G>T
  hgvsp: ENSP00000471579.1:p.Gln168His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*54G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.504G>T
  hgvsp: ENSP00000384465.2:p.Gln168His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.504G>T
  hgvsp: ENSP00000376303.4:p.Gln168His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*418G>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.504G>T
  hgvsp: ENSP00000473028.1:p.Gln168His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.504G>T
  hgvsp: ENSP00000470221.1:p.Gln168His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.504G>T
  hgvsp: ENSP00000346138.5:p.Gln168His
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.479G>T
  variant of: http://identifiers.org/hgnc/18540
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38057
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln168His
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: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

19-50204627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204627
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204627
    reference: chr 19
allele count: 1
allele frequency: 8.713078330574192e-6
allele num: 114770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.507C>T
  hgvsp: ENST00000323446.5:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.507C>T
  hgvsp: ENST00000598396.1:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.507C>T
  hgvsp: ENST00000405931.2:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.507C>T
  hgvsp: ENST00000598293.1:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.482C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.335C>T
  hgvsp: ENSP00000472453.1:p.Ala112Val
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.507C>T
  hgvsp: ENST00000354199.5:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.507C>T
  hgvsp: ENST00000392518.4:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*57C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-127C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*421C>T
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.507C>T
  hgvsp: ENST00000594587.1:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13056
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala112Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

19-50204642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50204642
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50204642
    reference: chr 19
allele count: 1
allele frequency: 8.708677326087714e-6
allele num: 114828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000346138
  ensembl transcript: ENST00000354199
  gene symbol: CPT1C
  hgvsc: ENST00000354199.5:c.522G>A
  hgvsp: ENST00000354199.5:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000295404
  gene symbol: CPT1C
  hgvsc: ENST00000295404.5:n.497G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000319343
  ensembl transcript: ENST00000323446
  gene symbol: CPT1C
  hgvsc: ENST00000323446.5:c.522G>A
  hgvsp: ENST00000323446.5:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000376303
  ensembl transcript: ENST00000392518
  gene symbol: CPT1C
  hgvsc: ENST00000392518.4:c.522G>A
  hgvsp: ENST00000392518.4:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472742
  ensembl transcript: ENST00000598259
  gene symbol: CPT1C
  hgvsc: ENST00000598259.1:c.*436G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000471579
  ensembl transcript: ENST00000594587
  gene symbol: CPT1C
  hgvsc: ENST00000594587.1:c.522G>A
  hgvsp: ENST00000594587.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000472453
  ensembl transcript: ENST00000595969
  gene symbol: CPT1C
  hgvsc: ENST00000595969.1:c.350G>A
  hgvsp: ENSP00000472453.1:p.Ser117Asn
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000384465
  ensembl transcript: ENST00000405931
  gene symbol: CPT1C
  hgvsc: ENST00000405931.2:c.522G>A
  hgvsp: ENST00000405931.2:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473082
  ensembl transcript: ENST00000595568
  gene symbol: CPT1C
  hgvsc: ENST00000595568.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000473028
  ensembl transcript: ENST00000598293
  gene symbol: CPT1C
  hgvsc: ENST00000598293.1:c.522G>A
  hgvsp: ENST00000598293.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169169
  ensembl transcript: ENST00000599023
  gene symbol: CPT1C
  hgvsc: ENST00000599023.1:n.762-112G>A
  variant of: http://identifiers.org/hgnc/18540
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169169
  ensembl protein: ENSP00000470221
  ensembl transcript: ENST00000598396
  gene symbol: CPT1C
  hgvsc: ENST00000598396.1:c.522G>A
  hgvsp: ENST00000598396.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18540
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser117Asn
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 6688
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6046
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1545
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32915
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2955
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.778994719342852e-5
allele num: 10226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.04814322003145e-5
allele num: 66136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.279e1

DP
type: SiteQuality
SIO_000300: 2.837569e6

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.484e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeDepth
all individuals: 5992
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1234
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 225
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2978
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32916
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510574018126888e-5
allele num: 66200
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.998e0

QD
type: SiteQuality
SIO_000300: 1.498e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

MQ
type: SiteQuality
SIO_000300: 5.857e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.132e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

DP
type: SiteQuality
SIO_000300: 2.837904e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 874
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1825
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variant carriers: 0

GenotypeDepth
all individuals: 646
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variant carriers: 0

GenotypeQuality
all individuals: 10587
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3882
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.248e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.51e-1

DP
type: SiteQuality
SIO_000300: 2.839424e6

GenotypeDepth
all individuals: 1543
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 3541
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6686
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 2980
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10613
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 1733
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 1710
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 3309
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32917
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.03172688340672e-5
allele num: 66316
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

DP
type: SiteQuality
SIO_000300: 2.840236e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.259e1

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.062e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

GenotypeDepth
all individuals: 646
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 874
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variant carriers: 0

GenotypeDepth
all individuals: 1826
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 3884
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variant carriers: 0

GenotypeQuality
all individuals: 1710
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 10613
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 2954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.942501942501943e-4
allele num: 10296
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.062e0

DP
type: SiteQuality
SIO_000300: 2.840236e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

GenotypeDepth
all individuals: 648
bin: 8.75e1
variant carriers: 4

GenotypeDepth
all individuals: 874
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variant carriers: 1

GenotypeDepth
all individuals: 6045
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variant carriers: 1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 1737
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 1710
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2985
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variant carriers: 0

GenotypeQuality
all individuals: 32936
bin: 9.75e1
variant carriers: 39

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 38
allele frequency: 5.714285714285715e-4
allele num: 66500
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

DP
type: SiteQuality
SIO_000300: 2.844894e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.603e0

GenotypeDepth
all individuals: 1231
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3541
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 29
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32912
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2963
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.471e0

DP
type: SiteQuality
SIO_000300: 2.842924e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeDepth
all individuals: 6019
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 10887
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GenotypeQuality
all individuals: 144
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GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 30
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3910
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GenotypeQuality
all individuals: 1710
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.444e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.96e1

VQSLOD
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QD
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SIO_000300: 1.247e1

DP
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
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allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

African
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num of homozygotes: 0

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

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

Other
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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SIO_000300: 8.97e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

South Asian
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MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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SIO_000300: 2.843623e6

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

Other
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

DP
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SIO_000300: 2.843744e6

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66626
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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FS
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MQRankSum
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

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

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

Other
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European (Finnish)
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European (Non-Finnish)
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allele num: 66638
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East Asian
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African
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Latino
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VQSLOD
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FS
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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East Asian
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African
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South Asian
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Other
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VQSLOD
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.815e0

FS
type: SiteQuality
SIO_000300: 8.215999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

DP
type: SiteQuality
SIO_000300: 2.844224e6

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.54e-1

GenotypeDepth
all individuals: 1231
bin: 7.75e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32905
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.494e0

QD
type: SiteQuality
SIO_000300: 1.303e1

DP
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SIO_000300: 2.844025e6

BaseQRankSum
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SIO_000300: -4.599e0

VQSLOD
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SIO_000300: -1.532e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.764e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

VQSLOD
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SIO_000300: 6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.753e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 2.844214e6

QD
type: SiteQuality
SIO_000300: 1.072e1

GenotypeDepth
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.844214e6

BaseQRankSum
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SIO_000300: -3.764e0

FS
type: SiteQuality
SIO_000300: 1.753e0

QD
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SIO_000300: 1.072e1

ReadPosRankSum
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SIO_000300: 4.51e-1

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000780101413184e-5
allele num: 66658
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

VQSLOD
type: SiteQuality
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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SIO_000300: -9.25e-1

ReadPosRankSum
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SIO_000300: -3.7e-1

QD
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SIO_000300: 1.208e1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

VQSLOD
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QD
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ClippingRankSum
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DP
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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East Asian
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DP
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SIO_000300: 2.843653e6

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

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 8
allele frequency: 9.263547938860583e-4
allele num: 8636
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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SIO_000300: 6.98e-1

BaseQRankSum
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DP
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QD
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000840235265874e-5
allele num: 66648
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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num of homozygotes: 0

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

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

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

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

Other
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South Asian
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allele num: 16508
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

QD
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SIO_000300: 8.57e0

DP
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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ClippingRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: -1.377e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 3.03e0

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

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

African
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num of homozygotes: 0

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

Latino
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European (Finnish)
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South Asian
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African
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Other
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East Asian
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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MQ
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FS
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MQRankSum
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SIO_000300: -8.124000000000001e0

ReadPosRankSum
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SIO_000300: -6.62e-1

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

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

East Asian
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allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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Other
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South Asian
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

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

African
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allele frequency: 0.0e0
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East Asian
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allele num: 8622
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Other
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Latino
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num of homozygotes: 0

South Asian
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allele frequency: 4.847309743092584e-4
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.016048566448278e-5
allele num: 66548
num of homozygotes: 0

FS
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.962e1

MQRankSum
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SIO_000300: 5.4e-2

VQSLOD
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SIO_000300: 1.12e0

GenotypeDepth
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variant carriers: 0

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

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

Other
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African
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allele count: 2
allele frequency: 1.932367149758454e-4
allele num: 10350
num of homozygotes: 0

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

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

East Asian
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ReadPosRankSum
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SIO_000300: 5.17e-1

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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European (Non-Finnish)
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allele num: 66548
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African
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South Asian
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.934235976789168e-4
allele num: 10340
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 2.322340919647004e-4
allele num: 8612
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.009057262359703e-5
allele num: 66466
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

African
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allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66376
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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SIO_000300: -1.07e-1

BaseQRankSum
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SIO_000300: -6.724e0

InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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SIO_000300: 2.833728e6

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

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

Latino
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allele frequency: 5.203816131830009e-4
allele num: 11530
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Other
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African
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South Asian
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allele frequency: 2.182347235693501e-3
allele num: 16496
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European (Non-Finnish)
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allele frequency: 2.110913422393776e-4
allele num: 66322
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European (Finnish)
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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DP
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MQ
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GenotypeDepth
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variant carriers: 66

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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allele count: 85
allele frequency: 1.284143098863911e-3
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African
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allele frequency: 1.105385961501069e-1
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Latino
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allele frequency: 4.774305555555556e-3
allele num: 11520
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European (Finnish)
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FS
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514417252241338e-5
allele num: 66032
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.378e0

ReadPosRankSum
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SIO_000300: 9.350000000000001e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -3.21e-1

MQRankSum
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FS
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SIO_000300: 4.144e0

QD
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BaseQRankSum
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SIO_000300: -5.339e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.790475e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
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allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65954
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.988e0

MQRankSum
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SIO_000300: -2.03e-1

ClippingRankSum
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QD
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VQSLOD
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SIO_000300: 9.96e-1

BaseQRankSum
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SIO_000300: 2.41e0

FS
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SIO_000300: 2.944e0

InbreedingCoeff
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SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 2.786225e6

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036836830757083e-5
allele num: 65858
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Finnish)
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allele count: 4
allele frequency: 6.062443164595332e-4
allele num: 6598
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
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SIO_000300: 2.41e-1

InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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SIO_000300: 2.43e-1

FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.438e1

DP
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SIO_000300: 2.777847e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520403819254394e-5
allele num: 65772
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 4.408e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.770736e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
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SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.163e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.043398867855621e-5
allele num: 65716
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

DP
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SIO_000300: 2.767863e6

FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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MQ
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SIO_000300: 5.973e1

GenotypeDepth
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variant carriers: 1

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

Latino
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allele count: 10
allele frequency: 8.726003490401396e-4
allele num: 11460
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65698
num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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BaseQRankSum
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FS
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MQ
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65596
num of homozygotes: 0

Latino
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South Asian
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African
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European (Finnish)
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65526
num of homozygotes: 0

Other
type: Population
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East Asian
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African
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allele frequency: 0.0e0
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South Asian
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

European (Non-Finnish)
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allele num: 52266
num of homozygotes: 0

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

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

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

Latino
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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BaseQRankSum
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SIO_000300: -1.658e0

FS
type: SiteQuality
SIO_000300: 7.66e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.549e1

DP
type: SiteQuality
SIO_000300: 1.251533e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.648315421639085e-5
allele num: 60668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14004
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
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SIO_000300: -9.53e-1

ClippingRankSum
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SIO_000300: -7.43e-1

FS
type: SiteQuality
SIO_000300: 1.4616e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 5.44e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.261646e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 143
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.291989664082687e-3
allele num: 774
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14272
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.091e0

VQSLOD
type: SiteQuality
SIO_000300: -5.999e-1

ClippingRankSum
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SIO_000300: 4.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.268882e6

QD
type: SiteQuality
SIO_000300: 9.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.162e0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9358
num of homozygotes: 0

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: 8368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62800
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.27653997378768e-4
allele num: 15260
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.441e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.828e0

MQ
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SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

InbreedingCoeff
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SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.095e0

DP
type: SiteQuality
SIO_000300: 1.317037e6

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582428711586543e-5
allele num: 63194
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.482561908466225e-5
allele num: 15426
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5456
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -3.0e-4

QD
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ReadPosRankSum
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MQRankSum
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FS
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SIO_000300: 1.298e0

ClippingRankSum
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SIO_000300: 3.91e-1

VQSLOD
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BaseQRankSum
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DP
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SIO_000300: 1.329959e6

MQ
type: SiteQuality
SIO_000300: 5.871e1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578432301038608e-5
allele num: 63354
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.180661577608143e-4
allele num: 9432
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

BaseQRankSum
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FS
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SIO_000300: 1.527e0

ClippingRankSum
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SIO_000300: 4.88e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-3

MQ
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SIO_000300: 5.942e1

QD
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ReadPosRankSum
type: SiteQuality
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.716981132075471e-5
allele num: 63600
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 820
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11060
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.340936e6

QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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SIO_000300: 6.19e-1

GenotypeDepth
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.786352268667381e-4
allele num: 5598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.593e1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.341395e6

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 275
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 720
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4337
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46107
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.012256669069935e-5
allele num: 11096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.248e0

QD
type: SiteQuality
SIO_000300: 1.616e1

VQSLOD
type: SiteQuality
SIO_000300: -1.178e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

DP
type: SiteQuality
SIO_000300: 1.337826e6

MQ
type: SiteQuality
SIO_000300: 5.881e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 1.858e0

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

GenotypeDepth
all individuals: 7
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 1

GenotypeDepth
all individuals: 2386
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4452
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 253
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4064
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574356875216474e-5
allele num: 63518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.562e0

MQ
type: SiteQuality
SIO_000300: 5.602e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.339466e6

QD
type: SiteQuality
SIO_000300: 7.82e0

VQSLOD
type: SiteQuality
SIO_000300: -1.49e0

GenotypeDepth
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 7.25e1
variant carriers: 0