19-39322147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322147
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322147
    reference: chr 19
allele count: 1
allele frequency: 9.596376408268239e-6
allele num: 104206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+189G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.152G>A
  hgvsp: ENSP00000470519.1:p.Gly51Asp
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+214G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.44G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.87G>A
  hgvsp: ENST00000594164.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5877G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.571G>A
  hgvsp: ENSP00000470059.1:p.Gly191Asp
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-179G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.62G>A
  hgvsp: ENSP00000221418.3:p.Gly21Asp
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.79G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.51G>A
  hgvsp: ENSP00000472322.1:p.Gly18Asp
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.62G>A
  hgvsp: ENSP00000470809.1:p.Gly21Asp
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-179G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.131G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.65G>A
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly191Asp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-39322150-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322150
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322150
    reference: chr 19
allele count: 3
allele frequency: 2.905681576041687e-5
allele num: 103246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.48C>G
  hgvsp: ENSP00000472322.1:p.Thr17Arg
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.149C>G
  hgvsp: ENSP00000470519.1:p.Thr50Arg
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.568C>G
  hgvsp: ENSP00000470059.1:p.Thr190Arg
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.59C>G
  hgvsp: ENSP00000221418.3:p.Thr20Arg
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.128C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.62C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-182C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.41C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5874C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.76C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.59C>G
  hgvsp: ENSP00000470809.1:p.Thr20Arg
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.84C>G
  hgvsp: ENSP00000470839.1:p.Asp28Glu
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-182C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+211C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+186C>G
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20912
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr190Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

19-39322159-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322159
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322159
    reference: chr 19
allele count: 5
allele frequency: 5.25839766106472e-5
allele num: 95086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+177C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-3C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-3C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-3C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+202C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-3C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-3C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-3C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-191C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-3C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-3C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-3C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5865C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-3C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-3C>A
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15247
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14727
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.53-3C>A
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

19-39322162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322162
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322162
    reference: chr 19
allele count: 4
allele frequency: 4.286785982209838e-5
allele num: 93310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-6C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-6C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5862C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-6C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-6C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-6C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-6C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-6C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-6C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+199C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-6C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+174C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-6C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-6C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-194C>T
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.53-6C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-39322162-GAGAAAGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322162
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322154
    reference: chr 19
allele count: 1
allele frequency: 1.07169649555246e-5
allele num: 93310
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-14_562-7delTCCTTTCT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-14_53-7delTCCTTTCT
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-14_78-7delTCCTTTCT
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-14_143-7delTCCTTTCT
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-14_35-7delTCCTTTCT
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-14_56-7delTCCTTTCT
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-14_122-7delTCCTTTCT
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-14_42-7delTCCTTTCT
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-14_53-7delTCCTTTCT
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-14_-188-7delTCCTTTCT
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-14_70-7delTCCTTTCT
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15651
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.53-14_53-7delTCCTTTCT
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: GAGAAAGGA
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

19-39322169-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322169
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322169
    reference: chr 19
allele count: 3
allele frequency: 3.458930959738044e-5
allele num: 86732
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-13C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-13C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-13C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-13C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-13C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-201C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-13C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-13C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+192C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+167C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-13C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-13C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-13C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5855C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-13C>T
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS

19-39322171-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322171
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322171
    reference: chr 19
allele count: 1
allele frequency: 1.192605843768634e-5
allele num: 83850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-15T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+190T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-15T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+165T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-15T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-15T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-15T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-15T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-203T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-15T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-15T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-15T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5853T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-15T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-15T>A
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-39322174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322174
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322174
    reference: chr 19
allele count: 5
allele frequency: 6.12369871402327e-5
allele num: 81650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5850C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-206C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+187C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-18C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-18C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-18C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-18C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-18C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-18C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-18C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+162C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-18C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-18C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-18C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-18C>T
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19707
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17189
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

19-39322181-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322181
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322181
    reference: chr 19
allele count: 23
allele frequency: 3.056965894893538e-4
allele num: 75238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+180T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5843T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-25T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-25T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-25T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-213T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+155T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-25T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-25T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-25T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-25T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-25T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-25T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-25T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-25T>A
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19983
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

19-39322183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322183
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322183
    reference: chr 19
allele count: 2
allele frequency: 2.698181425719065e-5
allele num: 74124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-215C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-27C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5841C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+178C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+153C>T
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-39322183-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322183
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322183
    reference: chr 19
allele count: 1
allele frequency: 1.349090712859533e-5
allele num: 74124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5841C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+178C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-27C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-27C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-27C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-27C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-27C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+153C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-215C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-27C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-27C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-27C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-27C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-27C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-27C>G
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20024
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/19-39322185-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322185
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322185
    reference: chr 19
allele count: 1
allele frequency: 1.402563886785043e-5
allele num: 71298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5839G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+176G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-29G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-217G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+151G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-29G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-29G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-29G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-29G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-29G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-29G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-29G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-29G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-29G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-29G>T
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-39322187-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322187
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322187
    reference: chr 19
allele count: 2
allele frequency: 2.852741484566669e-5
allele num: 70108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-31G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-31G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-219G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-31G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+174G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-31G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-31G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-31G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+149G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5837G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-31G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-31G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-31G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-31G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-31G>T
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19650
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-39322193-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322193
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322193
    reference: chr 19
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-37A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-37A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-225A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5831A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-37A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-37A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-37A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+168A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-37A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-37A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-37A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+143A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-37A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-37A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-37A>C
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19055
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

19-39322198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322198
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322198
    reference: chr 19
allele count: 4
allele frequency: 6.312932041286575e-5
allele num: 63362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-42C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-42C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-42C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-42C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5826C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-42C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-42C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+138C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-230C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-42C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-42C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-42C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+163C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-42C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-42C>T
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18510
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22164
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-39322200-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322200
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322200
    reference: chr 19
allele count: 1
allele frequency: 1.612747153501274e-5
allele num: 62006
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-44G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-44G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-44G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-44G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.143-44G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-44G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-188-44G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-232G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-44G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-44G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-44G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-44G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+161G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+136G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5824G>T
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18236
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

19-39322220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322220
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322220
    reference: chr 19
allele count: 1
allele frequency: 1.93371234095216e-5
allele num: 51714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-64C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5804C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-64C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-64C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-252C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-189+27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.142+27C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-64C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-64C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+116C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-64C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-64C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+141C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-64C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-64C>T
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14971
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-39322235-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322235
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322235
    reference: chr 19
allele count: 3
allele frequency: 6.228201295465869e-5
allele num: 48168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-79C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-79C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-79C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.142+12C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-79C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-267C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+126C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+101C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-79C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-79C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-79C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-79C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5789C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-189+12C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-79C>G
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25421
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-39322237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322237
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322237
    reference: chr 19
allele count: 1
allele frequency: 2.088554720133668e-5
allele num: 47880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-81C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-81C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+124C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.142+10C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-81C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-81C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-269C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-81C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+99C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-81C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-81C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-189+10C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-81C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-81C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5787C>T
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-39322242-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322242
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322242
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 47214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-189+5G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-86G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5782G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-86G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+119G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-86G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-86G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-86G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-86G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-274G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.142+5G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+94G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-86G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-86G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-86G>T
canonical: false
consequence: splice region
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25895
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-189+5G>T
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-39322242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322242
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322242
    reference: chr 19
allele count: 1
allele frequency: 2.118015842758504e-5
allele num: 47214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.42-86G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.122-86G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.142+5G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-86G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+119G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.53-86G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-189+5G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.53-86G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.78-86G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-274G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5782G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.56-86G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+94G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.35-86G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.70-86G>A
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12951
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-189+5G>A
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-39322261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322261
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322261
    reference: chr 19
allele count: 1
allele frequency: 2.058206067591487e-5
allele num: 48586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+100C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+100C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+75C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+100C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+100C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+100C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.128C>T
  hgvsp: ENSP00000470519.1:p.Ser43Phe
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+100C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-203C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-293C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5763C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-105C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+100C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+100C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+75C>T
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser43Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

19-39322265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322265
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322265
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 48714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.124G>A
  hgvsp: ENSP00000470519.1:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+96G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+96G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+96G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+96G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+96G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-297G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+71G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-109G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-207G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+96G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5759G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+96G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+71G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+96G>A
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu42Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-39322273-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322273
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322273
    reference: chr 19
allele count: 1
allele frequency: 1.950991103480568e-5
allele num: 51256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+88A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+88A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.116A>C
  hgvsp: ENSP00000470519.1:p.Glu39Ala
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-117A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+88A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-215A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+88A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+88A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+88A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+63A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+88A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5751A>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-305A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+63A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+88A>C
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu39Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

19-39322275-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322275
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322275
    reference: chr 19
allele count: 4
allele frequency: 7.747733787867049e-5
allele num: 51628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-217C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.114C>G
  hgvsp: ENSP00000470519.1:p.His38Gln
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+86C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+86C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+61C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-119C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+86C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+61C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+86C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-307C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+86C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5749C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+86C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+86C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+86C>G
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28309
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His38Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-39322278-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322278
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322278
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 52616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+58T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+83T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5746T>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-220T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-310T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+83T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+83T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+83T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-122T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.111T>C
  hgvsp: ENST00000602115.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+58T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+83T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+83T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+83T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+83T>C
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly37Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

19-39322278-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322278
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322278
    reference: chr 19
allele count: 1
allele frequency: 1.90056256651969e-5
allele num: 52616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.111T>A
  hgvsp: ENST00000602115.1:c.111T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-122T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5746T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+58T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+83T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-310T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+83T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+83T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+83T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+83T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+58T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+83T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-220T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+83T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+83T>A
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly37Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-39322296-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322296
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322296
    reference: chr 19
allele count: 1
allele frequency: 1.629779327879005e-5
allele num: 61358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+65G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+65G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+65G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.93G>C
  hgvsp: ENST00000602115.1:c.93G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-238G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000469354
  ensembl transcript: ENST00000601094
  gene symbol: ECH1
  hgvsc: ENST00000601094.1:c.-328G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+65G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+65G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+40G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-140G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5728G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+40G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+65G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+65G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+65G>C
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr31Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

19-39322300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322300
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322300
    reference: chr 19
allele count: 1
allele frequency: 1.536334306345061e-5
allele num: 65090
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-144G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+36G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+61G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+61G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+36G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+61G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-242G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.89G>A
  hgvsp: ENSP00000470519.1:p.Arg30Lys
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+61G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+61G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5724G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+61G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+61G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+61G>A
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg30Lys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-39322302-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322302
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322302
    reference: chr 19
allele count: 1
allele frequency: 1.48482508760468e-5
allele num: 67348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.87T>G
  hgvsp: ENSP00000470519.1:p.Cys29Trp
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+59T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+59T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-146T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+59T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+59T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+59T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+34T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-244T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+59T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+34T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+59T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+59T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5722T>G
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys29Trp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

19-39322302-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322302
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322302
    reference: chr 19
allele count: 2
allele frequency: 2.96965017520936e-5
allele num: 67348
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-146T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+59T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+59T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+59T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+59T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-244T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+34T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+59T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+59T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.87T>C
  hgvsp: ENST00000602115.1:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+34T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5722T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+59T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+59T>C
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys29Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-39322311-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322311
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322311
    reference: chr 19
allele count: 1
allele frequency: 1.313577133249264e-5
allele num: 76128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472378
  ensembl transcript: ENST00000595567
  gene symbol: ECH1
  hgvsc: ENST00000595567.1:c.-253T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+50T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+50T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.78T>C
  hgvsp: ENST00000602115.1:c.78T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+50T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+50T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-155T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+50T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+50T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+25T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+50T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+25T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5713T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+50T>C
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19819
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr26Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

19-39322323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322323
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322323
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 88574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+13G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+38G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+38G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+13G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+38G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.66G>A
  hgvsp: ENST00000602115.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5701G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-167G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+38G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+38G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+38G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+38G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+38G>A
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu22Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum

19-39322332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322332
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322332
    reference: chr 19
allele count: 8
allele frequency: 8.128098837681866e-5
allele num: 98424
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-176C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+29C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.57C>T
  hgvsp: ENST00000602115.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+29C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.77+4C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+29C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.77+4C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+29C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+29C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5692C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+29C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+29C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+29C>T
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32889
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.77+4C>T
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-39322348-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322348
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322348
    reference: chr 19
allele count: 8
allele frequency: 7.500046875292971e-5
allele num: 106666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+13T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+13T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+13T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-192T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+13T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.65T>G
  hgvsp: ENSP00000470839.1:p.Leu22Arg
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.65T>G
  hgvsp: ENSP00000471738.1:p.Leu22Arg
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+13T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+13T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+13T>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.41T>G
  hgvsp: ENSP00000470519.1:p.Leu14Arg
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5676T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+13T>G
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36595
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu22Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-39322352-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322352
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322352
    reference: chr 19
allele count: 477
allele frequency: 4.443326626425218e-3
allele num: 107352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.69+9C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.52+9C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.41+9C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-196C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.37C>A
  hgvsp: ENSP00000470519.1:p.Pro13Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.52+9C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.46+9C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.34+9C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5672C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.55+9C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.61C>A
  hgvsp: ENSP00000471738.1:p.Pro21Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.61C>A
  hgvsp: ENSP00000470839.1:p.Pro21Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.121+9C>A
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 2.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 36238
  bin: 2.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 3.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Pro21Thr
num of homozygotes: 3
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

19-39322363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322363
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322363
    reference: chr 19
allele count: 2
allele frequency: 1.852332086096395e-5
allele num: 107972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.50G>A
  hgvsp: ENSP00000471738.1:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.50G>A
  hgvsp: ENSP00000470839.1:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.39G>A
  hgvsp: ENSP00000472322.1:p.Arg14Gln
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.50G>A
  hgvsp: ENSP00000470809.1:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-207G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.67G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.32G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.119G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.50G>A
  hgvsp: ENSP00000221418.3:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.26G>A
  hgvsp: ENSP00000470519.1:p.Arg9Gln
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.53G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5661G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.44G>A
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg17Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

19-39322364-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322364
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322364
    reference: chr 19
allele count: 3
allele frequency: 2.7704924088508e-5
allele num: 108284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.49C>A
  hgvsp: ENST00000597205.1:c.49C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.49C>A
  hgvsp: ENST00000595470.1:c.49C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.49C>A
  hgvsp: ENST00000594164.1:c.49C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.118C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.66C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5660C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.25C>A
  hgvsp: ENST00000602115.1:c.25C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.49C>A
  hgvsp: ENST00000221418.4:c.49C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.43C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.52C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.31C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.38C>A
  hgvsp: ENST00000601778.1:c.38C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-208C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34726
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg17Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-39322376-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322376
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322376
    reference: chr 19
allele count: 1
allele frequency: 9.282120778955576e-6
allele num: 107734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.19G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.26G>A
  hgvsp: ENSP00000472322.1:p.Asp10Asn
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.37G>A
  hgvsp: ENSP00000470839.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5648G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.40G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.37G>A
  hgvsp: ENSP00000470809.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.37G>A
  hgvsp: ENSP00000221418.3:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.37G>A
  hgvsp: ENSP00000471738.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-220G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.31G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.13G>A
  hgvsp: ENSP00000470519.1:p.Asp5Asn
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.106G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.54G>A
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp13Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-39322378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322378
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322378
    reference: chr 19
allele count: 1
allele frequency: 9.32018565809831e-6
allele num: 107294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.35G>A
  hgvsp: ENSP00000470839.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.35G>A
  hgvsp: ENSP00000470809.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.52G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.11G>A
  hgvsp: ENSP00000470519.1:p.Arg4His
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.35G>A
  hgvsp: ENSP00000221418.3:p.Arg12His
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.35G>A
  hgvsp: ENSP00000471738.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-222G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.29G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5646G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.24G>A
  hgvsp: ENSP00000472322.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.38G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.17G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.104G>A
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg12His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-39322384-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322384
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322384
    reference: chr 19
allele count: 1
allele frequency: 9.357513147305972e-6
allele num: 106866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.29G>C
  hgvsp: ENSP00000470839.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.29G>C
  hgvsp: ENSP00000471738.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.46G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.11G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.29G>C
  hgvsp: ENSP00000470809.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.18G>C
  hgvsp: ENSP00000472322.1:p.Arg7Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-228G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.98G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.5G>C
  hgvsp: ENSP00000470519.1:p.Arg2Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.29G>C
  hgvsp: ENSP00000221418.3:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.23G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5640G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.32G>C
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9528
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg10Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

19-39322385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322385
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322385
    reference: chr 19
allele count: 1
allele frequency: 9.37013924026911e-6
allele num: 106722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.10A>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.28A>G
  hgvsp: ENSP00000221418.3:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.22A>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5639A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.28A>G
  hgvsp: ENSP00000470839.1:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.4A>G
  hgvsp: ENSP00000470519.1:p.Arg2Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.97A>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.45A>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.28A>G
  hgvsp: ENSP00000471738.1:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.28A>G
  hgvsp: ENSP00000470809.1:p.Arg10Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.17A>G
  hgvsp: ENSP00000472322.1:p.Arg7Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-229A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.31A>G
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg10Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-39322387-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322387
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322387
    reference: chr 19
allele count: 2
allele frequency: 1.884943074719143e-5
allele num: 106104
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.26G>A
  hgvsp: ENSP00000221418.3:p.Arg9His
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.26G>A
  hgvsp: ENSP00000470809.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.8G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-231G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.26G>A
  hgvsp: ENSP00000471738.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.43G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.95G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.2G>A
  hgvsp: ENSP00000470519.1:p.Arg1?
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5637G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.26G>A
  hgvsp: ENSP00000470839.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.15G>A
  hgvsp: ENSP00000472322.1:p.Arg6His
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.20G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.29G>A
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1?
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

19-39322388-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322388
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322388
    reference: chr 19
allele count: 1
allele frequency: 9.413182220381423e-6
allele num: 106234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5636C>G
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470519
  ensembl transcript: ENST00000602115
  gene symbol: ECH1
  hgvsc: ENST00000602115.1:c.1C>G
  hgvsp: ENSP00000470519.1:p.Arg1?
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.42C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.7C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.25C>G
  hgvsp: ENSP00000471738.1:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.19C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.25C>G
  hgvsp: ENSP00000470839.1:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.94C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.25C>G
  hgvsp: ENSP00000221418.3:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-232C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.14C>G
  hgvsp: ENSP00000472322.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.28C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.25C>G
  hgvsp: ENSP00000470809.1:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/3149
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9927
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1?
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

19-39322390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322390
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322390
    reference: chr 19
allele count: 6
allele frequency: 5.733287467033597e-5
allele num: 104652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.17C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.23C>T
  hgvsp: ENSP00000471738.1:p.Ser8Phe
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.23C>T
  hgvsp: ENSP00000470809.1:p.Ser8Phe
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.23C>T
  hgvsp: ENSP00000470839.1:p.Ser8Phe
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5634C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.40C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.23C>T
  hgvsp: ENSP00000221418.3:p.Ser8Phe
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.5C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.12C>T
  hgvsp: ENSP00000472322.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.26C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-234C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.92C>T
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10437
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser8Phe
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

19-39322390-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322390
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322390
    reference: chr 19
allele count: 5
allele frequency: 4.777739555861331e-5
allele num: 104652
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.23C>G
  hgvsp: ENSP00000470809.1:p.Ser8Cys
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.23C>G
  hgvsp: ENSP00000471738.1:p.Ser8Cys
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.17C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.23C>G
  hgvsp: ENSP00000221418.3:p.Ser8Cys
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.12C>G
  hgvsp: ENSP00000472322.1:p.Ser5Cys
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.92C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.40C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.23C>G
  hgvsp: ENSP00000470839.1:p.Ser8Cys
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-234C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.26C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.5C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5634C>G
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10437
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser8Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

19-39322391-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322391
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322391
    reference: chr 19
allele count: 1
allele frequency: 9.330273003788091e-6
allele num: 107178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5633T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.91T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.22T>A
  hgvsp: ENSP00000221418.3:p.Ser8Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.39T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.4T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.22T>A
  hgvsp: ENSP00000470839.1:p.Ser8Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-235T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.22T>A
  hgvsp: ENSP00000471738.1:p.Ser8Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.25T>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.22T>A
  hgvsp: ENSP00000470809.1:p.Ser8Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.11T>A
  hgvsp: ENSP00000472322.1:p.Ser5Thr
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.16T>A
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser8Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

19-39322392-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322392
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322392
    reference: chr 19
allele count: 1
allele frequency: 9.339858781335226e-6
allele num: 107068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.21T>C
  hgvsp: ENST00000597205.1:c.21T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.21T>C
  hgvsp: ENST00000594164.1:c.21T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.21T>C
  hgvsp: ENST00000221418.4:c.21T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.15T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.3T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.24T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.21T>C
  hgvsp: ENST00000595470.1:c.21T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.10T>C
  hgvsp: ENST00000601778.1:c.10T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5632T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.90T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.38T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-236T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28019
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala7Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

19-39322393-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322393
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322393
    reference: chr 19
allele count: 2
allele frequency: 1.872518912441016e-5
allele num: 106808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5631C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.9C>G
  hgvsp: ENSP00000472322.1:p.Ala4Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.20C>G
  hgvsp: ENSP00000470809.1:p.Ala7Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.20C>G
  hgvsp: ENSP00000470839.1:p.Ala7Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.20C>G
  hgvsp: ENSP00000471738.1:p.Ala7Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-237C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.37C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.20C>G
  hgvsp: ENSP00000221418.3:p.Ala7Gly
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598316
  gene symbol: ECH1
  hgvsc: ENST00000598316.1:n.2C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.23C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.14C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.89C>G
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala7Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

19-39322397-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322397
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322397
    reference: chr 19
allele count: 10
allele frequency: 9.452331890277332e-5
allele num: 105794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.33G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-241G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.85G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.16G>C
  hgvsp: ENSP00000471738.1:p.Val6Leu
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.16G>C
  hgvsp: ENSP00000470809.1:p.Val6Leu
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.5G>C
  hgvsp: ENSP00000472322.1:p.Val3Leu
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.10G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5627G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.16G>C
  hgvsp: ENSP00000470839.1:p.Val6Leu
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.16G>C
  hgvsp: ENSP00000221418.3:p.Val6Leu
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.19G>C
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27709
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val6Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

19-39322398-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322398
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322398
    reference: chr 19
allele count: 1
allele frequency: 9.44733112895607e-6
allele num: 105850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.15A>C
  hgvsp: ENST00000595470.1:c.15A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.9A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.15A>C
  hgvsp: ENST00000597205.1:c.15A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5626A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.84A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.15A>C
  hgvsp: ENST00000221418.4:c.15A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.32A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.18A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000472322
  ensembl transcript: ENST00000601778
  gene symbol: ECH1
  hgvsc: ENST00000601778.1:c.4A>C
  hgvsp: ENST00000601778.1:c.4A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.15A>C
  hgvsp: ENST00000594164.1:c.15A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-242A>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile5Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

19-39322402-C-CCCGCCGCCATCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322402
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322414
    reference: chr 19
allele count: 1
allele frequency: 9.371368594669566e-6
allele num: 106708
alternate allele: CCCGCCGCCATCG
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.4_5insCGATGGCGGCGG
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.2_13dupCGATGGCGGCGG
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 26413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala3_Gly4insAlaMetAlaAla
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-39322403-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322403
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322403
    reference: chr 19
allele count: 1
allele frequency: 9.387379606856542e-6
allele num: 106526
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-247G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5621G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.10G>T
  hgvsp: ENSP00000221418.3:p.Gly4Trp
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.13G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.10G>T
  hgvsp: ENSP00000470839.1:p.Gly4Trp
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.4G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.10G>T
  hgvsp: ENSP00000471738.1:p.Gly4Trp
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.10G>T
  hgvsp: ENSP00000470809.1:p.Gly4Trp
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.79G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.27G>T
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34877
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly4Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

19-39322405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322405
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322405
    reference: chr 19
allele count: 6
allele frequency: 5.697464628240433e-5
allele num: 105310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.8C>T
  hgvsp: ENSP00000470839.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.77C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.25C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000597805
  gene symbol: ECH1
  hgvsc: ENST00000597805.1:n.2C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-249C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.11C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.8C>T
  hgvsp: ENSP00000470809.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5619C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.8C>T
  hgvsp: ENSP00000221418.3:p.Ala3Val
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.8C>T
  hgvsp: ENSP00000471738.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25202
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8302
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11081
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala3Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/19-39322407-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322407
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322407
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 105674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.23G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5617G>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.6G>T
  hgvsp: ENST00000221418.4:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.6G>T
  hgvsp: ENST00000594164.1:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.6G>T
  hgvsp: ENST00000597205.1:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.6G>T
  hgvsp: ENST00000595470.1:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.9G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-251G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.75G>T
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala2Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-39322411-A-ATCGCCGCCGCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322411
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322423
    reference: chr 19
allele count: 1
allele frequency: 9.4559071051686e-6
allele num: 105754
alternate allele: ATCGCCGCCGCCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.4_5insAGGCGGCGGCGA
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.1_2insAGGCGGCGGCGA
  hgvsp: ENSP00000470839.1:p.Tyr1_?0
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsp: ENSP00000221418.3:p.Leu1_?0
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.1_2insAGGCGGCGGCGA
  hgvsp: ENSP00000471738.1:p.Ala1_?0
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsp: ENSP00000470809.1:p.Leu1_?0
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.7_18dupAGGCGGCGGCGA
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu1_?0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-39322411-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322411
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322411
    reference: chr 19
allele count: 2
allele frequency: 1.89118142103372e-5
allele num: 105754
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.2T>C
  hgvsp: ENSP00000221418.3:p.Met1?
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.5T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-255T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.71T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.19T>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.2T>C
  hgvsp: ENSP00000471738.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.2T>C
  hgvsp: ENSP00000470809.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.2T>C
  hgvsp: ENSP00000470839.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5613T>C
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25857
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

19-39322414-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322414
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322414
    reference: chr 19
allele count: 4765
allele frequency: 4.520015177385695e-2
allele num: 105420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-258C>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.-2C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000598707
  gene symbol: ECH1
  hgvsc: ENST00000598707.1:n.2C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.16C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.-2C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.-2C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5610C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.68C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000471738
  ensembl transcript: ENST00000597205
  gene symbol: ECH1
  hgvsc: ENST00000597205.1:c.-2C>A
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 7.5e0
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 1.25e1
  variant carriers: 441
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 1.75e1
  variant carriers: 729
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 3.25e1
  variant carriers: 545
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 2.75e1
  variant carriers: 751
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 24115
  bin: 2.25e1
  variant carriers: 803
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 361
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 406
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 5006
  bin: 9.75e1
  variant carriers: 4391
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 6.75e1
  variant carriers: 39
num of homozygotes: 104
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

19-39322417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322417
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322417
    reference: chr 19
allele count: 1
allele frequency: 9.604118245903844e-6
allele num: 104122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.65C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.-5C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.13C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5607C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-261C>T
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23529
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30813
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

19-39322421-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322421
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322421
    reference: chr 19
allele count: 1
allele frequency: 9.652509652509653e-6
allele num: 103600
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.-9G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-265G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5603G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.9G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.61G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470839
  ensembl transcript: ENST00000594164
  gene symbol: ECH1
  hgvsc: ENST00000594164.1:c.-9G>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.-9G>C
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22406
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-39322425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322425
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322425
    reference: chr 19
allele count: 1
allele frequency: 9.7431700378035e-6
allele num: 102636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.57G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5599G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.5G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-269G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.-13G>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.-13G>A
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

19-39322426-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322426
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322426
    reference: chr 19
allele count: 4
allele frequency: 3.900232063807797e-5
allele num: 102558
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-270C>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.-14C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5598C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.56C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.4C>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.-14C>G
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19897
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

19-39322426-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322426
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322426
    reference: chr 19
allele count: 1
allele frequency: 9.750580159519492e-6
allele num: 102558
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-270C>A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.-14C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5598C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.56C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.4C>A
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.-14C>A
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14182
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

19-39322429-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322429
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322429
    reference: chr 19
allele count: 1
allele frequency: 9.775935557032808e-6
allele num: 102292
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.-17A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.53A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5595A>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000470809
  ensembl transcript: ENST00000595470
  gene symbol: ECH1
  hgvsc: ENST00000595470.1:c.-17A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000600178
  gene symbol: ECH1
  hgvsc: ENST00000600178.1:n.1A>C
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-273A>C
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-39322432-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322432
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322432
    reference: chr 19
allele count: 1
allele frequency: 9.824726872592943e-6
allele num: 101784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.50A>G
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5592A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-276A>G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.-20A>G
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16760
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18148
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

19-39322435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322435
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322435
    reference: chr 19
allele count: 3
allele frequency: 2.969591384225531e-5
allele num: 101024
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-279C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5589C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.47C>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.-23C>T
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18051
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-39322442-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39322442
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39322442
    reference: chr 19
allele count: 1
allele frequency: 1.006562789386802e-5
allele num: 99348
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000104823
  ensembl protein: ENSP00000221418
  ensembl transcript: ENST00000221418
  gene symbol: ECH1
  hgvsc: ENST00000221418.4:c.-30G>T
  variant of: http://identifiers.org/hgnc/3149
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000470059
  ensembl transcript: ENST00000594769
  gene symbol: AC104534.3
  hgvsc: ENST00000594769.1:c.562-286G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000268083
  ensembl protein: ENSP00000471066
  ensembl transcript: ENST00000602021
  gene symbol: AC104534.3
  hgvsc: ENST00000602021.1:c.237+5582G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104823
  ensembl transcript: ENST00000601060
  gene symbol: ECH1
  hgvsc: ENST00000601060.1:n.40G>T
  variant of: http://identifiers.org/hgnc/3149
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5870
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15697
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 346
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4786
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1452
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.391982182628062e-4
allele num: 7184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.096e0

VQSLOD
type: SiteQuality
SIO_000300: -2.694e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 3.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.577e0

DP
type: SiteQuality
SIO_000300: 1.303298e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

GenotypeDepth
all individuals: 37
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 752
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5372
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2444
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1857
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16562
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 457
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.232505643340858e-4
allele num: 7088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.28246e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

QD
type: SiteQuality
SIO_000300: 1.032e1

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3311
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22680
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 438
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21760
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 731
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4838
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.552650277106721e-4
allele num: 14074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52806
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e0

QD
type: SiteQuality
SIO_000300: 1.147e1

DP
type: SiteQuality
SIO_000300: 1.130086e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 2.964e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

GenotypeDepth
all individuals: 14138
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13072
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3212
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 15651
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 34
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variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
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variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24136
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variant carriers: 0

GenotypeQuality
all individuals: 21086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2635
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variant carriers: 0

GenotypeQuality
all individuals: 666
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variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
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variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 260
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.789493998224555e-5
allele num: 51818
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.096448e6

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

GenotypeDepth
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 24
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variant carriers: 0

GenotypeDepth
all individuals: 9286
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variant carriers: 0

GenotypeDepth
all individuals: 3180
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 34
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variant carriers: 0

GenotypeDepth
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 594
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variant carriers: 0

GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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bin: 2.75e1
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: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 666
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variant carriers: 0

GenotypeQuality
all individuals: 260
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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: 21086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.929831332741519e-5
allele num: 51818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.172e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

DP
type: SiteQuality
SIO_000300: 1.096448e6

GenotypeDepth
all individuals: 548
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
all individuals: 49
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variant carriers: 0

GenotypeDepth
all individuals: 64
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variant carriers: 0

GenotypeDepth
all individuals: 18289
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variant carriers: 0

GenotypeDepth
all individuals: 22
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variant carriers: 0

GenotypeDepth
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 364
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variant carriers: 0

GenotypeQuality
all individuals: 229
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GenotypeQuality
all individuals: 27747
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variant carriers: 0

GenotypeQuality
all individuals: 15880
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variant carriers: 0

GenotypeQuality
all individuals: 3502
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variant carriers: 0

GenotypeQuality
all individuals: 496
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variant carriers: 0

GenotypeQuality
all individuals: 469
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variant carriers: 0

GenotypeQuality
all individuals: 456
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variant carriers: 0

GenotypeQuality
all individuals: 1652
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variant carriers: 0

GenotypeQuality
all individuals: 120
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GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 141
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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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.078569943878612e-5
allele num: 48110
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.512019230769231e-5
allele num: 13312
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4298
num of homozygotes: 0

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

East Asian
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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 frequency: 1.478852410529429e-4
allele num: 6762
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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InbreedingCoeff
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SIO_000300: -3.9e-3

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.644091117566121e-5
allele num: 13082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
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

Latino
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: 46332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -6.4e-3

MQ
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MQRankSum
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SIO_000300: 2.0e-1

ReadPosRankSum
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SIO_000300: 1.0e0

BaseQRankSum
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SIO_000300: 1.54e0

ClippingRankSum
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SIO_000300: -1.135e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3984
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
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 4.021447721179625e-4
allele num: 7460
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 3.222687721559781e-4
allele num: 6206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45144
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.15142e5

VQSLOD
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SIO_000300: 2.15e0

ReadPosRankSum
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SIO_000300: 7.7e-2

FS
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QD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 6.840000000000001e-1

MQRankSum
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SIO_000300: 1.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -7.4e-3

GenotypeDepth
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variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41600
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 3.164556962025316e-3
allele num: 6952
num of homozygotes: 0

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

Latino
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allele frequency: 1.88465887674331e-4
allele num: 5306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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MQRankSum
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SIO_000300: 3.11e-1

VQSLOD
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SIO_000300: 6.11e0

InbreedingCoeff
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SIO_000300: -9.900000000000001e-3

ReadPosRankSum
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SIO_000300: 3.21e-1

DP
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SIO_000300: 8.42674e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

FS
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GenotypeDepth
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variant carriers: 0

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

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

Latino
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South Asian
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European (Non-Finnish)
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allele count: 2
allele frequency: 4.877097151775263e-5
allele num: 41008
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Other
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3494
num of homozygotes: 0

Other
type: Population
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East Asian
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allele frequency: 2.079002079002079e-4
allele num: 4810
num of homozygotes: 0

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

Latino
type: Population
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num of homozygotes: 0

East Asian
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South Asian
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allele count: 0
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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3318
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.1e-2

MQ
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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VQSLOD
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FS
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 2.215330084182543e-4
allele num: 4514
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.576522724930434e-5
allele num: 38812
num of homozygotes: 0

Latino
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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: 6526
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

MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.588814744200826e-4
allele num: 6294
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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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 7.70033e5

InbreedingCoeff
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SIO_000300: -1.33e-2

ClippingRankSum
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QD
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FS
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SIO_000300: 3.922e0

MQRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -9.22e-1

MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 1.37e0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 4
allele frequency: 6.602839220864972e-4
allele num: 6058
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3680
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35056
num of homozygotes: 0

East Asian
type: Population
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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.08e-1

InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 3.58e-1

MQRankSum
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SIO_000300: 0.0e0

DP
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SIO_000300: 7.43837e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34384
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 500
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 2.844141069397042e-4
allele num: 3516
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele num: 28594
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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South Asian
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 26712
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Other
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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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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European (Finnish)
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Latino
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African
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South Asian
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European (Non-Finnish)
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East Asian
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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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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European (Finnish)
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MQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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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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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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South Asian
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East Asian
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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Other
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African
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ReadPosRankSum
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MQRankSum
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FS
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DP
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MQ
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African
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East Asian
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 2
allele frequency: 6.966699177929497e-5
allele num: 28708
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: 8.928571428571428e-4
allele num: 2240
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 5042
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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FS
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29254
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

African
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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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Latino
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South Asian
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ReadPosRankSum
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BaseQRankSum
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MQ
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MQRankSum
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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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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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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2360
num of homozygotes: 0

Other
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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: 5112
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 9.446438692612885e-5
allele num: 10586
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

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

MQ
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SIO_000300: 5.763e1

FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.22e-2

VQSLOD
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ClippingRankSum
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SIO_000300: -3.55e-1

DP
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SIO_000300: 7.3629e5

QD
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SIO_000300: 1.192e1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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 num: 4066
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Other
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African
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South Asian
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allele count: 0
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num of homozygotes: 0

Latino
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ReadPosRankSum
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SIO_000300: -1.031e0

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

GenotypeDepth
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variant carriers: 0

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.732539075308777e-5
allele num: 36596
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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QD
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele frequency: 0.0e0
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African
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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East Asian
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Latino
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 11662
num of homozygotes: 0

European (Finnish)
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Other
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Latino
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allele frequency: 2.483854942871336e-4
allele num: 4026
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37962
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.82273e5

QD
type: SiteQuality
SIO_000300: 1.376e1

FS
type: SiteQuality
SIO_000300: 3.98e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

GenotypeDepth
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8804
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24113
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43116
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.477978125923736e-4
allele num: 6766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12214
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.71032e5

VQSLOD
type: SiteQuality
SIO_000300: -1.743e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

QD
type: SiteQuality
SIO_000300: 1.572e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.939e0

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

GenotypeDepth
all individuals: 35
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15701
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.5e0
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: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
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variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6644
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50098
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.422e0

VQSLOD
type: SiteQuality
SIO_000300: -1.168e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.465e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.09697e6

QD
type: SiteQuality
SIO_000300: 7.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.001e0

GenotypeDepth
all individuals: 7507
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 163
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variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 12710
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variant carriers: 0

GenotypeQuality
all individuals: 3055
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variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 558
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1238
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 217
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.263081919884518e-4
allele num: 55420
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.191140514885661e-5
allele num: 13906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7346
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 2.158e0

DP
type: SiteQuality
SIO_000300: 1.197922e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeDepth
all individuals: 489
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7061
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variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
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GenotypeQuality
all individuals: 723
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 8813
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
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variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
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GenotypeQuality
all individuals: 3558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40745
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variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.176193836744295e-4
allele num: 59514
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14826
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.994003597841295e-5
allele num: 10006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
SIO_000300: 1.274902e6

QD
type: SiteQuality
SIO_000300: 1.25e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeDepth
all individuals: 45
bin: 9.75e1
variant carriers: 16

GenotypeDepth
all individuals: 35
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 9

GenotypeDepth
all individuals: 68
bin: 5.75e1
variant carriers: 10

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1152
bin: 9.75e1
variant carriers: 463

GenotypeQuality
all individuals: 477
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40327
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 8590
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 364
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 997
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 48
bin: 2.5e0
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GenotypeQuality
all individuals: 914
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 3.25e1
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GenotypeQuality
all individuals: 1022
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3553
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 523
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 546
bin: 8.25e1
variant carriers: 4

African
type: Population
allele count: 439
allele frequency: 4.86157253599114e-2
allele num: 9030
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.31578947368421e-3
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 2.074688796680498e-3
allele num: 10122
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.342642320085929e-4
allele num: 14896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.342782556310452e-4
allele num: 59758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.284706e6

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeDepth
all individuals: 6183
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 23
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GenotypeDepth
all individuals: 17
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GenotypeDepth
all individuals: 296
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 162
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GenotypeQuality
all individuals: 600
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.5e0
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GenotypeQuality
all individuals: 722
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 621
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.75e1
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GenotypeQuality
all individuals: 1064
bin: 2.75e1
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GenotypeQuality
all individuals: 480
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GenotypeQuality
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GenotypeQuality
all individuals: 976
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 974
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GenotypeQuality
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GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 39790
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GenotypeQuality
all individuals: 548
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variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15034
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.213858755811379e-4
allele num: 9034
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.285106e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.871e0

VQSLOD
type: SiteQuality
SIO_000300: -1.675e0

FS
type: SiteQuality
SIO_000300: 7.659e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

QD
type: SiteQuality
SIO_000300: 2.219e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.48e-1

GenotypeDepth
all individuals: 163
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
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GenotypeDepth
all individuals: 298
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variant carriers: 0

GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 57
bin: 2.5e0
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GenotypeQuality
all individuals: 329
bin: 5.75e1
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GenotypeQuality
all individuals: 405
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GenotypeQuality
all individuals: 315
bin: 4.25e1
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GenotypeQuality
all individuals: 8646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.75e1
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GenotypeQuality
all individuals: 392
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variant carriers: 1

GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 542
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GenotypeQuality
all individuals: 958
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GenotypeQuality
all individuals: 40144
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GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 932
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GenotypeQuality
all individuals: 370
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GenotypeQuality
all individuals: 721
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variant carriers: 2

GenotypeQuality
all individuals: 974
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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African
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allele frequency: 1.1059500110595e-4
allele num: 9042
num of homozygotes: 0

Other
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.326458652118954e-5
allele num: 60124
num of homozygotes: 0

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

European (Non-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 frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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FS
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VQSLOD
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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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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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: 0
allele frequency: 0.0e0
allele num: 59600
num of homozygotes: 0

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

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

Latino
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East Asian
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allele frequency: 1.256281407035176e-4
allele num: 7960
num of homozygotes: 0

African
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allele frequency: 0.0e0
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DP
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 1.13e-1

QD
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SIO_000300: 2.133e1

ReadPosRankSum
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.686170033386167e-5
allele num: 59306
num of homozygotes: 0

Other
type: Population
allele count: 0
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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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.907e1

FS
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InbreedingCoeff
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DP
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.686852670287777e-5
allele num: 59282
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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African
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South Asian
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European (Finnish)
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Other
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MQ
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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QD
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 58912
num of homozygotes: 0

African
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European (Finnish)
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South Asian
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allele num: 15024
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Latino
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East Asian
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Other
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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FS
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DP
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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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African
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East Asian
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Other
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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MQ
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FS
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DP
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MQRankSum
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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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variant carriers: 5

GenotypeQuality
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GenotypeQuality
all individuals: 811
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GenotypeQuality
all individuals: 1141
bin: 7.5e0
variant carriers: 1

African
type: Population
allele count: 3
allele frequency: 3.62143891839691e-4
allele num: 8284
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.813882532418002e-4
allele num: 7866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4470
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.318e0

QD
type: SiteQuality
SIO_000300: 4.77e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.264e1

FS
type: SiteQuality
SIO_000300: 6.745099999999999e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

DP
type: SiteQuality
SIO_000300: 1.247452e6

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2018
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variant carriers: 0

GenotypeQuality
all individuals: 892
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.59904378633096e-5
allele num: 58146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.264e1

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

DP
type: SiteQuality
SIO_000300: 1.247452e6

FS
type: SiteQuality
SIO_000300: 6.745099999999999e1

QD
type: SiteQuality
SIO_000300: 4.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.318e0

BaseQRankSum
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SIO_000300: -2.524e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

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: 1

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.633059166887768e-5
allele num: 15076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 1.229e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.02e0

ClippingRankSum
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SIO_000300: -1.088e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 1.26782e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 919
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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: 363
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variant carriers: 0

GenotypeQuality
all individuals: 343
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variant carriers: 0

GenotypeQuality
all individuals: 883
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 509
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variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.683388324018585e-5
allele num: 59404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4918
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.107e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.655e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.162e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

FS
type: SiteQuality
SIO_000300: 1.808e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

DP
type: SiteQuality
SIO_000300: 1.266172e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.662e1

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
all individuals: 707
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59298
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.328374070138151e-4
allele num: 15056
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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BaseQRankSum
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FS
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MQ
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QD
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MQRankSum
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ClippingRankSum
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SIO_000300: -2.26e-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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

African
type: Population
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: 58750
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.688068485821295e-4
allele num: 14952
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East Asian
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allele count: 0
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allele num: 7922
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 2.507e0

DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
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QD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 5.932e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 1
allele frequency: 1.700795972515137e-5
allele num: 58796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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South Asian
type: Population
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Latino
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European (Finnish)
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East Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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DP
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QD
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VQSLOD
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ClippingRankSum
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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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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.684806415742831e-5
allele num: 59354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.272988e6

VQSLOD
type: SiteQuality
SIO_000300: 9.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 5.315e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 4.02e0

GenotypeQuality
all individuals: 508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.706008583690987e-5
allele num: 14912
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

FS
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.266009e6

MQ
type: SiteQuality
SIO_000300: 5.871e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.648e0

QD
type: SiteQuality
SIO_000300: 4.9e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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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variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.023541453428864e-4
allele num: 58620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4738
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 1.049e1

DP
type: SiteQuality
SIO_000300: 1.243085e6

FS
type: SiteQuality
SIO_000300: 1.004e1

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: 1

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: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

QD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.241515e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

GenotypeQuality
all individuals: 11903
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 284
bin: 1.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 710
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variant carriers: 1

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.696525515743757e-5
allele num: 58944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.238506e6

MQ
type: SiteQuality
SIO_000300: 5.808e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 5.979e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
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variant carriers: 0

GenotypeQuality
all individuals: 710
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.987281399046105e-4
allele num: 10064
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

FS
type: SiteQuality
SIO_000300: 5.979e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.808e1

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

DP
type: SiteQuality
SIO_000300: 1.238506e6

GenotypeQuality
all individuals: 754
bin: 7.25e1
variant carriers: 37

GenotypeQuality
all individuals: 30193
bin: 6.25e1
variant carriers: 29

GenotypeQuality
all individuals: 747
bin: 7.75e1
variant carriers: 37

GenotypeQuality
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variant carriers: 14

GenotypeQuality
all individuals: 929
bin: 3.75e1
variant carriers: 23

GenotypeQuality
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bin: 7.5e0
variant carriers: 9

GenotypeQuality
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bin: 3.25e1
variant carriers: 13

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 11

GenotypeQuality
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variant carriers: 14

GenotypeQuality
all individuals: 221
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variant carriers: 38

GenotypeQuality
all individuals: 715
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variant carriers: 17

GenotypeQuality
all individuals: 218
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variant carriers: 44

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 49

African
type: Population
allele count: 80
allele frequency: 9.398496240601503e-3
allele num: 8512
num of homozygotes: 0

Other
type: Population
allele count: 40
allele frequency: 5.524861878453038e-2
allele num: 724
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 284
allele frequency: 5.973916701724864e-2
allele num: 4754
num of homozygotes: 6

Latino
type: Population
allele count: 247
allele frequency: 2.473958333333333e-2
allele num: 9984
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 3267
allele frequency: 5.557634730538922e-2
allele num: 58784
num of homozygotes: 73

East Asian
type: Population
allele count: 10
allele frequency: 1.281394156842645e-3
allele num: 7804
num of homozygotes: 0

South Asian
type: Population
allele count: 837
allele frequency: 5.633328846412707e-2
allele num: 14858
num of homozygotes: 22

QD
type: SiteQuality
SIO_000300: 1.23e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

DP
type: SiteQuality
SIO_000300: 1.29814e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

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
all individuals: 234
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.287332646755922e-4
allele num: 7768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.56e0

DP
type: SiteQuality
SIO_000300: 1.219413e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.126e0

VQSLOD
type: SiteQuality
SIO_000300: 3.73e-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
all individuals: 761
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.025641025641026e-4
allele num: 9750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

QD
type: SiteQuality
SIO_000300: 1.231e1

FS
type: SiteQuality
SIO_000300: 2.007e0

DP
type: SiteQuality
SIO_000300: 1.195303e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 731
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GenotypeQuality
all individuals: 1075
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GenotypeQuality
all individuals: 1581
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.747579602250883e-5
allele num: 57222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7648
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 3.704e0

QD
type: SiteQuality
SIO_000300: 1.48e1

DP
type: SiteQuality
SIO_000300: 1.156332e6

GenotypeQuality
all individuals: 720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.75963826749167e-4
allele num: 8404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.155702e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 3.384e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.114e1

GenotypeQuality
all individuals: 1079
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.040582726326743e-4
allele num: 9610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57188
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.155702e6

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

FS
type: SiteQuality
SIO_000300: 3.384e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 3616
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 496
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.928086462519052e-5
allele num: 14434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.134321e6

VQSLOD
type: SiteQuality
SIO_000300: -2.393e-1

MQ
type: SiteQuality
SIO_000300: 5.826e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

GenotypeQuality
all individuals: 22794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.761679937988866e-5
allele num: 56764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.108173e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.461e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.635e0

VQSLOD
type: SiteQuality
SIO_000300: -4.623e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -1.134e0

QD
type: SiteQuality
SIO_000300: 1.046e1

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.098489087856743e-4
allele num: 14296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4436
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.081398e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

FS
type: SiteQuality
SIO_000300: 2.668e0

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

QD
type: SiteQuality
SIO_000300: 1.384e1