7-43664232-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664232
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664232
    reference: chr 7
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14816C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14816C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1036G>C
  hgvsp: ENSP00000319192.5:p.Gly346Arg
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14816C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1716G>C
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5879
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly346Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

7-43664234-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664234
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664234
    reference: chr 7
allele count: 9
allele frequency: 7.417297136923305e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14814A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14814A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14814A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1718T>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1038T>A
  hgvsp: ENST00000319357.5:c.1038T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20104
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly346Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-43664244-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664244
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664244
    reference: chr 7
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14804G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14804G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14804G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1728C>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1048C>A
  hgvsp: ENSP00000319192.5:p.Pro350Thr
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
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genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 3243
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro350Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

7-43664245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664245
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664245
    reference: chr 7
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14803G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14803G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1729C>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1049C>T
  hgvsp: ENSP00000319192.5:p.Pro350Leu
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14803G>A
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21878
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro350Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

7-43664247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664247
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664247
    reference: chr 7
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14801C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1731G>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14801C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1051G>A
  hgvsp: ENSP00000319192.5:p.Glu351Lys
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14801C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20117
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20930
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu351Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum

7-43664255-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664255
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664255
    reference: chr 7
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14793A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14793A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14793A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1059T>C
  hgvsp: ENST00000319357.5:c.1059T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1739T>C
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20119
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20923
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn353Asn
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-43664258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664258
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664258
    reference: chr 7
allele count: 8
allele frequency: 6.592609684543627e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14790C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14790C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1742G>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1062G>A
  hgvsp: ENST00000319357.5:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14790C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20138
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser354Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

7-43664261-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664261
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664261
    reference: chr 7
allele count: 3
allele frequency: 2.47222863170386e-5
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1065T>C
  hgvsp: ENST00000319357.5:c.1065T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14787A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1745T>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14787A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14787A>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20147
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp355Asp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-43664264-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664264
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664264
    reference: chr 7
allele count: 3
allele frequency: 2.472187886279357e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1748C>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14784G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1068C>T
  hgvsp: ENST00000319357.5:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14784G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14784G>A
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr356Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-43664265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664265
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664265
    reference: chr 7
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14783C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14783C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1749G>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1069G>A
  hgvsp: ENSP00000319192.5:p.Asp357Asn
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14783C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3955
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20166
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp357Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-43664268-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664268
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664268
    reference: chr 7
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1072A>C
  hgvsp: ENSP00000319192.5:p.Lys358Gln
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14780T>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14780T>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1752A>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14780T>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys358Gln
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-43664279-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664279
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664279
    reference: chr 7
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1083C>T
  hgvsp: ENST00000319357.5:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1763C>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14769G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14769G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14769G>A
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr361Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

7-43664280-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664280
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664280
    reference: chr 7
allele count: 97280
allele frequency: 8.014499917614104e-1
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1084A>G
  hgvsp: ENSP00000319192.5:p.Lys362Glu
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14768T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14768T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14768T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1764A>G
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 7.25e1
  variant carriers: 3664
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 650
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.75e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 6.75e1
  variant carriers: 3209
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 2.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 6.25e1
  variant carriers: 2870
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 5.75e1
  variant carriers: 2351
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 5.25e1
  variant carriers: 1913
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 7.75e1
  variant carriers: 3801
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 8.25e1
  variant carriers: 4062
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 8.75e1
  variant carriers: 3985
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 4.75e1
  variant carriers: 1399
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 971
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.25e1
  variant carriers: 521
genotype depth: GenotypeDepth
  all individuals: 24319
  bin: 9.75e1
  variant carriers: 24296
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 9.25e1
  variant carriers: 3824
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 145
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 6.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 57496
  bin: 9.75e1
  variant carriers: 57407
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 6.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 3
hgvs: p.Lys362Glu
num of homozygotes: 39291
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

7-43664287-CCATTGTAACCGAAGAGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664287
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664269
    reference: chr 7
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsp: ENSP00000319192.5:p.Thr367_Val372del
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8775
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr367_Val372del
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: CCATTGTAACCGAAGAGTT
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

7-43664290-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664290
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664290
    reference: chr 7
allele count: 29
allele frequency: 2.38942719662514e-4
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14758A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14758A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14758A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1774T>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1094T>C
  hgvsp: ENSP00000319192.5:p.Ile365Thr
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15682
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile365Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-43664291-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664291
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664291
    reference: chr 7
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14757A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1775T>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1095T>C
  hgvsp: ENST00000319357.5:c.1095T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14757A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14757A>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6821
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile365Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-43664296-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664296
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664296
    reference: chr 7
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1100C>A
  hgvsp: ENSP00000319192.5:p.Thr367Asn
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1780C>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14752G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14752G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14752G>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr367Asn
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

7-43664297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664297
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664297
    reference: chr 7
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14751G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1101C>T
  hgvsp: ENST00000319357.5:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14751G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1781C>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14751G>A
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6814
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr367Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

7-43664298-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664298
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664298
    reference: chr 7
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14750C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14750C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14750C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1102G>A
  hgvsp: ENSP00000319192.5:p.Glu368Lys
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1782G>A
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8779
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6797
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu368Lys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

7-43664308-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664308
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664308
    reference: chr 7
allele count: 3
allele frequency: 2.472310126582278e-5
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1112T>C
  hgvsp: ENSP00000319192.5:p.Ile371Thr
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14740A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14740A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1792T>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14740A>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6790
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile371Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

7-43664317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664317
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664317
    reference: chr 7
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14731G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1121C>T
  hgvsp: ENSP00000319192.5:p.Thr374Ile
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14731G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1801C>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14731G>A
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr374Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

7-43664325-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664325
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664325
    reference: chr 7
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14723T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14723T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1809A>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14723T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1129A>G
  hgvsp: ENSP00000319192.5:p.Thr377Ala
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8752
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr377Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

7-43664329-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664329
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664329
    reference: chr 7
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1133T>C
  hgvsp: ENSP00000319192.5:p.Leu378Pro
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1813T>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14719A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14719A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14719A>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu378Pro
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

7-43664330-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664330
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664330
    reference: chr 7
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14718T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14718T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14718T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1134A>G
  hgvsp: ENST00000319357.5:c.1134A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1814A>G
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6780
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu378Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-43664331-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664331
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664331
    reference: chr 7
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1135G>C
  hgvsp: ENSP00000319192.5:p.Gly379Arg
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14717C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14717C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1815G>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14717C>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6775
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly379Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

7-43664332-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664332
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664332
    reference: chr 7
allele count: 2
allele frequency: 1.648886177387175e-5
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14716C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14716C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14716C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1136G>C
  hgvsp: ENSP00000319192.5:p.Gly379Ala
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1816G>C
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6775
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly379Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

7-43664338-GCAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664338
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664334
    reference: chr 7
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1826_1829delACAG
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1146_1149delACAG
  hgvsp: ENSP00000319192.5:p.Arg382SerfsTer96
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14706_*133+14709delTCTG
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14706_*133+14709delTCTG
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14706_*133+14709delTCTG
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6771
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg382SerfsTer96
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: GCAGA
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-43664341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664341
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664341
    reference: chr 7
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14707C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1145G>A
  hgvsp: ENSP00000319192.5:p.Arg382Lys
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14707C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1825G>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14707C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6769
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg382Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

7-43664343-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664343
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664343
    reference: chr 7
allele count: 3
allele frequency: 2.474022761009401e-5
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14705G>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1827C>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14705G>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14705G>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1147C>G
  hgvsp: ENSP00000319192.5:p.Gln383Glu
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6766
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln383Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

7-43664357-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664357
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664357
    reference: chr 7
allele count: 3
allele frequency: 2.476269087907552e-5
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1841G>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1161G>C
  hgvsp: ENSP00000319192.5:p.Glu387Asp
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14691C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14691C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14691C>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu387Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

7-43664362-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664362
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664362
    reference: chr 7
allele count: 60
allele frequency: 4.954092080058128e-4
allele num: 121112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14686A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1846T>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14686A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14686A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1166T>C
  hgvsp: ENSP00000319192.5:p.Met389Thr
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22309
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met389Thr
num of homozygotes: 1
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum

7-43664363-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664363
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664363
    reference: chr 7
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14685C>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1847G>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1167G>T
  hgvsp: ENSP00000319192.5:p.Met389Ile
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14685C>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14685C>A
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met389Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

7-43664367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664367
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664367
    reference: chr 7
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14681G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1851C>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14681G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14681G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1171C>T
  hgvsp: ENSP00000319192.5:p.Gln391Ter
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6719
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln391Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-43664368-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664368
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664368
    reference: chr 7
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1852A>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1172A>C
  hgvsp: ENSP00000319192.5:p.Gln391Pro
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14680T>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14680T>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14680T>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln391Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

7-43664373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664373
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664373
    reference: chr 7
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14675C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1177G>A
  hgvsp: ENSP00000319192.5:p.Ala393Thr
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14675C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1857G>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14675C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala393Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

7-43664373-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664373
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664373
    reference: chr 7
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14675C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14675C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1177G>C
  hgvsp: ENSP00000319192.5:p.Ala393Pro
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1857G>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14675C>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31758
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala393Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-43664380-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664380
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664380
    reference: chr 7
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14668G>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14668G>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14668G>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1184C>G
  hgvsp: ENSP00000319192.5:p.Ser395Cys
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1864C>G
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser395Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

7-43664381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664381
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664381
    reference: chr 7
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1185C>T
  hgvsp: ENST00000319357.5:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14667G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14667G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14667G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1865C>T
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser395Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS

7-43664385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664385
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664385
    reference: chr 7
allele count: 1
allele frequency: 8.298617450332775e-6
allele num: 120502
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1189C>T
  hgvsp: ENSP00000319192.5:p.Arg397Ter
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14663G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14663G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14663G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1869C>T
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg397Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

7-43664386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664386
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664386
    reference: chr 7
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1870G>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14662C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1190G>A
  hgvsp: ENSP00000319192.5:p.Arg397Gln
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14662C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14662C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg397Gln
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

7-43664396-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664396
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664396
    reference: chr 7
allele count: 7
allele frequency: 5.835570301949081e-5
allele num: 119954
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1200T>C
  hgvsp: ENST00000319357.5:c.1200T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14652A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1880T>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14652A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14652A>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6695
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 8427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe400Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

7-43664402-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664402
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664402
    reference: chr 7
allele count: 1
allele frequency: 8.375209380234507e-6
allele num: 119400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1886A>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1206A>G
  hgvsp: ENST00000319357.5:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14646T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14646T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14646T>C
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu402Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

7-43664403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664403
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664403
    reference: chr 7
allele count: 1
allele frequency: 8.376752835530836e-6
allele num: 119378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1887C>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14645G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14645G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1207C>T
  hgvsp: ENSP00000319192.5:p.Pro403Ser
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14645G>A
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro403Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

7-43664404-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664404
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664404
    reference: chr 7
allele count: 1
allele frequency: 8.384900471231407e-6
allele num: 119262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14644G>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1888C>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14644G>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14644G>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1208C>G
  hgvsp: ENSP00000319192.5:p.Pro403Arg
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30520
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro403Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

7-43664407-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664407
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664407
    reference: chr 7
allele count: 2
allele frequency: 1.681548369738856e-5
allele num: 118938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14641A>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14641A>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1891T>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1211T>G
  hgvsp: ENSP00000319192.5:p.Leu404Trp
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14641A>C
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6678
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu404Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

7-43664429-ATTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664429
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664426
    reference: chr 7
allele count: 3
allele frequency: 2.585048081894323e-5
allele num: 116052
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1234_1236delTTT
  hgvsp: ENSP00000319192.5:p.Phe412del
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14616_*133+14618delAAA
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14616_*133+14618delAAA
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1914_1916delTTT
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14616_*133+14618delAAA
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6667
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe412del
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: ATTT
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-43664437-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664437
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664437
    reference: chr 7
allele count: 1
allele frequency: 8.704432296925594e-6
allele num: 114884
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1241A>G
  hgvsp: ENSP00000319192.5:p.Tyr414Cys
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1921A>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14611T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14611T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14611T>C
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr414Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

7-43664439-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664439
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664439
    reference: chr 7
allele count: 1
allele frequency: 8.730422028600862e-6
allele num: 114542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14609A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14609A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1923T>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1243T>C
  hgvsp: ENSP00000319192.5:p.Ter415ArgextTer13
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14609A>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ter415ArgextTer13
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

7-43664440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664440
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664440
    reference: chr 7
allele count: 14
allele frequency: 1.222216402144117e-4
allele num: 114546
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_retained_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.1244G>A
  hgvsp: ENST00000319357.5:c.1244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14608C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1924G>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14608C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14608C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13831
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7525
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ter415Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

7-43664449-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664449
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664449
    reference: chr 7
allele count: 1
allele frequency: 8.843609607697478e-6
allele num: 113076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14599A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14599A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.*8T>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14599A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1933T>C
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6639
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-43664458-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664458
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664458
    reference: chr 7
allele count: 45
allele frequency: 4.046980952209652e-4
allele num: 111194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1942G>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14590C>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14590C>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.*17G>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14590C>A
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14985
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12348
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

7-43664465-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664465
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664465
    reference: chr 7
allele count: 1
allele frequency: 9.099346666909316e-6
allele num: 109898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1949A>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14583T>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14583T>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.*24A>T
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14583T>A
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

7-43664474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664474
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664474
    reference: chr 7
allele count: 1
allele frequency: 9.314803085062781e-6
allele num: 107356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.*33A>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14574T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14574T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14574T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1958A>G
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-43664477-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664477
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664477
    reference: chr 7
allele count: 55342
allele frequency: 5.193993430314406e-1
allele num: 106550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14571A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14571A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1961T>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.*36T>C
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14571A>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 1.25e1
  variant carriers: 3661
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 2.25e1
  variant carriers: 6384
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 3.75e1
  variant carriers: 4847
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 1481
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.5e0
  variant carriers: 553
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.25e1
  variant carriers: 2990
genotype depth: GenotypeDepth
  all individuals: 10486
  bin: 2.75e1
  variant carriers: 7063
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 822
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 7.5e0
  variant carriers: 3252
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 1.75e1
  variant carriers: 4900
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 481
genotype depth: GenotypeDepth
  all individuals: 8523
  bin: 3.25e1
  variant carriers: 6434
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 8.25e1
  variant carriers: 1205
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 2.5e0
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 1.25e1
  variant carriers: 340
genotype quality: GenotypeQuality
  all individuals: 31496
  bin: 9.75e1
  variant carriers: 30853
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 3.75e1
  variant carriers: 670
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 938
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 1.75e1
  variant carriers: 770
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 277
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 4.25e1
  variant carriers: 418
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 3.25e1
  variant carriers: 683
genotype quality: GenotypeQuality
  all individuals: 5059
  bin: 6.25e1
  variant carriers: 1005
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 7.25e1
  variant carriers: 606
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 806
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 2.25e1
  variant carriers: 881
num of homozygotes: 14901
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

7-43664482-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664482
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664482
    reference: chr 7
allele count: 1
allele frequency: 9.723086496577473e-6
allele num: 102848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14566T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1966A>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.*41A>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14566T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14566T>C
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

7-43664483-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664483
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664483
    reference: chr 7
allele count: 1206
allele frequency: 1.175759466521078e-2
allele num: 102572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14565T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1967A>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.*42A>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14565T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14565T>C
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 7.5e0
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 2.25e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 3.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 1.75e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 3.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 1.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 11840
  bin: 2.75e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5218
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4784
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 9.75e1
  variant carriers: 1216
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7669
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.5e0
  variant carriers: 4
num of homozygotes: 13
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

7-43664485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664485
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664485
    reference: chr 7
allele count: 12
allele frequency: 1.177232326799694e-4
allele num: 101934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14563C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.*44G>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1969G>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14563C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14563C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11275
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5468
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

7-43664489-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664489
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664489
    reference: chr 7
allele count: 2
allele frequency: 2.000440096821301e-5
allele num: 99978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14559T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14559T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.*48A>G
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14559T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1973A>G
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10986
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
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: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-43664490-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664490
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664491
    reference: chr 7
allele count: 1
allele frequency: 1.000780608874922e-5
allele num: 99922
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14557dupT
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14557dupT
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1975dupA
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14557dupT
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.*50dupA
  variant of: http://identifiers.org/hgnc/11395
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10969
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5717
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

7-43664492-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43664492
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43664492
    reference: chr 7
allele count: 1
allele frequency: 1.007495768517772e-5
allele num: 99256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164543
  ensembl transcript: ENST00000474211
  gene symbol: STK17A
  hgvsc: ENST00000474211.1:n.1976T>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164543
  ensembl protein: ENSP00000319192
  ensembl transcript: ENST00000319357
  gene symbol: STK17A
  hgvsc: ENST00000319357.5:c.*51T>A
  variant of: http://identifiers.org/hgnc/11395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*133+14556A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*133+14556A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*133+14556A>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11066
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-43679130-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679130
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679130
    reference: chr 7
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*51T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*51T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.*51T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*51T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.*51T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1367T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.*51T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.*51T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.*51T>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1403T>C
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

7-43679133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679133
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679133
    reference: chr 7
allele count: 5
allele frequency: 4.125889129107322e-5
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.*48C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*48C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.*48C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.*48C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*48C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1364C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1400C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

7-43679151-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679151
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679151
    reference: chr 7
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*30A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*30A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.*30A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1346A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.*30A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1382A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*30A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.*30A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.*30A>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.*30A>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9992
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-43679160-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679160
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679160
    reference: chr 7
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1373C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1337C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*21C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.*21C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*21C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.*21C>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.*21C>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16647
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

7-43679167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679167
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679167
    reference: chr 7
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.*14G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.*14G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*14G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.*14G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.*14G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*14G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*14G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.*14G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1366G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1330G>A
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS

7-43679171-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679171
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679171
    reference: chr 7
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.*10A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*10A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.*10A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*10A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*10A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.*10A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1326A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1362A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.*10A>G
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.*10A>G
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-43679174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679174
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679174
    reference: chr 7
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1323C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1359C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.*7C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*7C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.*7C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.*7C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*7C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-43679176-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679176
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679176
    reference: chr 7
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1357G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.*5G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*5G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1321G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.*5G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.*5G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.*5G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*5G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.*5G>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*5G>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

7-43679176-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679176
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679176
    reference: chr 7
allele count: 5
allele frequency: 4.120177332432388e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*5G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.*5G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1357G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*5G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1321G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.*5G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.*5G>A
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16835
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

7-43679177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679177
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679177
    reference: chr 7
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.*4C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1356C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.*4C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1320C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.*4C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.*4C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.*4C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

7-43679186-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679186
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679186
    reference: chr 7
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.436G>C
  hgvsp: ENSP00000395586.1:p.Glu146Gln
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.436G>C
  hgvsp: ENSP00000223336.6:p.Glu146Gln
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.436G>C
  hgvsp: ENSP00000312100.6:p.Glu146Gln
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.436G>C
  hgvsp: ENSP00000413777.1:p.Glu146Gln
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.436G>C
  hgvsp: ENSP00000379218.1:p.Glu146Gln
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.436G>C
  hgvsp: ENSP00000416406.1:p.Glu146Gln
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.436G>C
  hgvsp: ENSP00000400759.1:p.Glu146Gln
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1347G>C
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.436G>C
  hgvsp: ENSP00000379219.3:p.Glu146Gln
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1311G>C
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu146Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

7-43679204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679204
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679204
    reference: chr 7
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1329G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.418G>A
  hgvsp: ENSP00000379218.1:p.Gly140Ser
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.418G>A
  hgvsp: ENSP00000400759.1:p.Gly140Ser
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.418G>A
  hgvsp: ENSP00000312100.6:p.Gly140Ser
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.418G>A
  hgvsp: ENSP00000223336.6:p.Gly140Ser
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.418G>A
  hgvsp: ENSP00000395586.1:p.Gly140Ser
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1293G>A
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.418G>A
  hgvsp: ENSP00000379219.3:p.Gly140Ser
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.418G>A
  hgvsp: ENSP00000413777.1:p.Gly140Ser
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.418G>A
  hgvsp: ENSP00000416406.1:p.Gly140Ser
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6714
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly140Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

7-43679205-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43679205
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43679205
    reference: chr 7
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000223336
  ensembl transcript: ENST00000223336
  gene symbol: COA1
  hgvsc: ENST00000223336.6:c.417C>T
  hgvsp: ENST00000223336.6:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000400759
  ensembl transcript: ENST00000415076
  gene symbol: COA1
  hgvsc: ENST00000415076.2:c.417C>T
  hgvsp: ENST00000415076.2:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000416406
  ensembl transcript: ENST00000446330
  gene symbol: COA1
  hgvsc: ENST00000446330.2:c.417C>T
  hgvsp: ENST00000446330.2:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000488813
  gene symbol: COA1
  hgvsc: ENST00000488813.1:n.1292C>T
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000395586
  ensembl transcript: ENST00000438444
  gene symbol: COA1
  hgvsc: ENST00000438444.1:c.417C>T
  hgvsp: ENST00000438444.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379219
  ensembl transcript: ENST00000395880
  gene symbol: COA1
  hgvsc: ENST00000395880.3:c.417C>T
  hgvsp: ENST00000395880.3:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000312100
  ensembl transcript: ENST00000310564
  gene symbol: COA1
  hgvsc: ENST00000310564.6:c.417C>T
  hgvsp: ENST00000310564.6:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000379218
  ensembl transcript: ENST00000395879
  gene symbol: COA1
  hgvsc: ENST00000395879.1:c.417C>T
  hgvsp: ENST00000395879.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106603
  ensembl protein: ENSP00000413777
  ensembl transcript: ENST00000446564
  gene symbol: COA1
  hgvsc: ENST00000446564.1:c.417C>T
  hgvsp: ENST00000446564.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21868
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106603
  ensembl transcript: ENST00000490251
  gene symbol: COA1
  hgvsc: ENST00000490251.1:n.1328C>T
  variant of: http://identifiers.org/hgnc/21868
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn139Asn
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2783
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3934
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.518e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.867e0

FS
type: SiteQuality
SIO_000300: 3.931e0

VQSLOD
type: SiteQuality
SIO_000300: -2.492e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 2.72e1

DP
type: SiteQuality
SIO_000300: 2.414732e6

GenotypeQuality
all individuals: 5881
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3935
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20952
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349163518618457e-4
allele num: 66708
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.278e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.415332e6

VQSLOD
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.142e0

GenotypeQuality
all individuals: 3951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20108
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

FS
type: SiteQuality
SIO_000300: 4.283e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: -4.065e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-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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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10404
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East Asian
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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
allele num: 16512
num of homozygotes: 0

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

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.507e0

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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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

DP
type: SiteQuality
SIO_000300: 2.416591e6

FS
type: SiteQuality
SIO_000300: 5.766e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e0

ClippingRankSum
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SIO_000300: -2.914e0

QD
type: SiteQuality
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VQSLOD
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SIO_000300: -1.582e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.62962962962963e-4
allele num: 8640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 1.337e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

DP
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FS
type: SiteQuality
SIO_000300: 2.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-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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variant carriers: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.472222222222222e-4
allele num: 8640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.417754e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
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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: 3

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.197e0

VQSLOD
type: SiteQuality
SIO_000300: -8.735000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e-1

DP
type: SiteQuality
SIO_000300: 2.418957e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.423e1

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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bin: 7.25e1
variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.419021e6

QD
type: SiteQuality
SIO_000300: 1.52e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 1.733e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.1e-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
all individuals: 1545
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GenotypeQuality
all individuals: 3262
bin: 8.25e1
variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.419803e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.802e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 98

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 146
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variant carriers: 65

South Asian
type: Population
allele count: 13777
allele frequency: 8.344639612356147e-1
allele num: 16510
num of homozygotes: 5787

European (Finnish)
type: Population
allele count: 5362
allele frequency: 8.109497882637628e-1
allele num: 6612
num of homozygotes: 2179

Other
type: Population
allele count: 739
allele frequency: 8.138766519823789e-1
allele num: 908
num of homozygotes: 302

African
type: Population
allele count: 9790
allele frequency: 9.408033826638478e-1
allele num: 10406
num of homozygotes: 4603

European (Non-Finnish)
type: Population
allele count: 51411
allele frequency: 7.704792734466325e-1
allele num: 66726
num of homozygotes: 19841

East Asian
type: Population
allele count: 5978
allele frequency: 6.912580943570767e-1
allele num: 8648
num of homozygotes: 2045

Latino
type: Population
allele count: 10223
allele frequency: 8.835782195332758e-1
allele num: 11570
num of homozygotes: 4534

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.16e-2

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 4.92e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

QD
type: SiteQuality
SIO_000300: 2.685e1

DP
type: SiteQuality
SIO_000300: 5.60154e6

GenotypeQuality
all individuals: 1307
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variant carriers: 0

GenotypeQuality
all individuals: 31828
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 2821
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.708e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.048329e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 29

GenotypeQuality
all individuals: 3019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2817
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496537665997182e-5
allele num: 66718
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 25
allele frequency: 2.890841813135985e-3
allele num: 8648
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.577e1

FS
type: SiteQuality
SIO_000300: 1.097e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

DP
type: SiteQuality
SIO_000300: 2.048741e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

GenotypeQuality
all individuals: 8780
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variant carriers: 0

GenotypeQuality
all individuals: 1881
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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: 17
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variant carriers: 0

GenotypeQuality
all individuals: 4071
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.331e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.432e1

VQSLOD
type: SiteQuality
SIO_000300: -5.002e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

DP
type: SiteQuality
SIO_000300: 2.047102e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.203e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.61e-1

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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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: 6815
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variant carriers: 1

GenotypeQuality
all individuals: 4069
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.98e0

VQSLOD
type: SiteQuality
SIO_000300: -2.37e-2

FS
type: SiteQuality
SIO_000300: 6.1e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.216e0

DP
type: SiteQuality
SIO_000300: 2.046807e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.111e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 1.144e0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

DP
type: SiteQuality
SIO_000300: 2.046756e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

QD
type: SiteQuality
SIO_000300: 2.861e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4067
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.468e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 4.035e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.622e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 2.04593e6

GenotypeQuality
all individuals: 1878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.545e1

DP
type: SiteQuality
SIO_000300: 2.045221e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

FS
type: SiteQuality
SIO_000300: 1.658e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

DP
type: SiteQuality
SIO_000300: 2.044879e6

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3012
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variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.82e-1

FS
type: SiteQuality
SIO_000300: 8.64e-1

DP
type: SiteQuality
SIO_000300: 2.04451e6

QD
type: SiteQuality
SIO_000300: 1.19e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.626e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.007e1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 89
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8744
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GenotypeQuality
all individuals: 2793
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.917e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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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
all individuals: 17
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GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16506
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Latino
type: Population
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allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.04396e6

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

MQRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.129e1

FS
type: SiteQuality
SIO_000300: 2.359e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.82e-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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.349e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-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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bin: 1.25e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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QD
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FS
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
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East Asian
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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
allele num: 16500
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: -4.099e0

DP
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SIO_000300: 2.042665e6

MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498695378340282e-5
allele num: 66686
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

FS
type: SiteQuality
SIO_000300: 1.0858e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.948e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.042481e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.599653379549393e-4
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

FS
type: SiteQuality
SIO_000300: 3.024e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 2.040367e6

GenotypeQuality
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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: 59

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
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allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.851653959296392e-4
allele num: 66628
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 40
allele frequency: 6.047777441790143e-3
allele num: 6614
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
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Latino
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African
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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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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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ClippingRankSum
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SIO_000300: -2.2e-1

MQ
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DP
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66588
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Latino
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allele frequency: 0.0e0
allele num: 11534
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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African
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allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
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Other
type: Population
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allele num: 902
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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MQ
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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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.502855425308085e-5
allele num: 66540
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Latino
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Other
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East Asian
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African
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allele frequency: 0.0e0
allele num: 10230
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European (Finnish)
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allele num: 6612
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South Asian
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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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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African
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South Asian
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Latino
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European (Finnish)
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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SIO_000300: 1.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

FS
type: SiteQuality
SIO_000300: 9.234999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

DP
type: SiteQuality
SIO_000300: 2.032994e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.696e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.291e1

VQSLOD
type: SiteQuality
SIO_000300: -6.435999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.59e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 2.028253e6

GenotypeQuality
all individuals: 1294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8573
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.027456e6

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 31514
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6700
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506250941406838e-5
allele num: 66390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.615e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

DP
type: SiteQuality
SIO_000300: 2.024519e6

GenotypeQuality
all individuals: 2963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6697
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variant carriers: 1

GenotypeQuality
all individuals: 1869
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.023485e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.639e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 9.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.278e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
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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: 58
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GenotypeQuality
all individuals: 2688
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.329004329004329e-4
allele num: 16170
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 2.012531e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

QD
type: SiteQuality
SIO_000300: 1.347e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

FS
type: SiteQuality
SIO_000300: 4.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1861
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variant carriers: 0

GenotypeQuality
all individuals: 1598
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168224299065421e-4
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.001267e6

QD
type: SiteQuality
SIO_000300: 7.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: -1.292e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2658
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variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516024377671993e-5
allele num: 65962
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.00093e6

VQSLOD
type: SiteQuality
SIO_000300: -2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.083e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6678
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516898246465627e-5
allele num: 65924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15858
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.998498e6

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.286e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.212e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.79e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.481e0

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
all individuals: 69
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038497766704142e-5
allele num: 65822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15700
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 1.117e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

DP
type: SiteQuality
SIO_000300: 1.992551e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 3826
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.62620281273131e-5
allele num: 64848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

DP
type: SiteQuality
SIO_000300: 1.930725e6

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.104e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.72e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6665
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variant carriers: 1

GenotypeQuality
all individuals: 2870
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553422189082549e-5
allele num: 64374
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.904056e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.035e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3789
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6662
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556904873112253e-5
allele num: 64230
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.085e0

QD
type: SiteQuality
SIO_000300: 1.795e1

VQSLOD
type: SiteQuality
SIO_000300: -7.433999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 5.069e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.89748e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.029e0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6659
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2866
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 1.754693805930865e-4
allele num: 11398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.86799501867995e-4
allele num: 64240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.018e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.896983e6

QD
type: SiteQuality
SIO_000300: 1.295e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

GenotypeQuality
all individuals: 1843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7201
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.191327138432213e-4
allele num: 8394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 1.859392e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.857e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 199
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6470
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6642
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 2308
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3588
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.823010411152286e-5
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62964
num of homozygotes: 0

African
type: Population
allele count: 44
allele frequency: 4.712939160239932e-3
allele num: 9336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11884
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 1.801654e6

QD
type: SiteQuality
SIO_000300: 2.634e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

GenotypeQuality
all individuals: 6037
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6604
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 820
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601742696053306e-5
allele num: 62432
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 1.754628e6

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

QD
type: SiteQuality
SIO_000300: 4.39e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

GenotypeQuality
all individuals: 3147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5090
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.631055292774425e-5
allele num: 61310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.169e1

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

FS
type: SiteQuality
SIO_000300: 4.411e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 1.692988e6

GenotypeQuality
all individuals: 2194
bin: 6.75e1
variant carriers: 970

GenotypeQuality
all individuals: 1166
bin: 2.75e1
variant carriers: 450

GenotypeQuality
all individuals: 879
bin: 5.75e1
variant carriers: 613

GenotypeQuality
all individuals: 1568
bin: 7.75e1
variant carriers: 1099

GenotypeQuality
all individuals: 840
bin: 8.75e1
variant carriers: 731

GenotypeQuality
all individuals: 1255
bin: 9.25e1
variant carriers: 1111

South Asian
type: Population
allele count: 6724
allele frequency: 6.44926146173029e-1
allele num: 10426
num of homozygotes: 2163

East Asian
type: Population
allele count: 4765
allele frequency: 5.908978174603174e-1
allele num: 8064
num of homozygotes: 1375

Latino
type: Population
allele count: 5971
allele frequency: 5.382188570398414e-1
allele num: 11094
num of homozygotes: 1609

European (Finnish)
type: Population
allele count: 2839
allele frequency: 4.369036626654355e-1
allele num: 6498
num of homozygotes: 645

African
type: Population
allele count: 7252
allele frequency: 8.07392562903585e-1
allele num: 8982
num of homozygotes: 2928

European (Non-Finnish)
type: Population
allele count: 27393
allele frequency: 4.512404045728594e-1
allele num: 60706
num of homozygotes: 6084

Other
type: Population
allele count: 398
allele frequency: 5.102564102564102e-1
allele num: 780
num of homozygotes: 97

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

DP
type: SiteQuality
SIO_000300: 1.648635e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

QD
type: SiteQuality
SIO_000300: 2.525e1

GenotypeQuality
all individuals: 832
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.695317532973926e-5
allele num: 58986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

FS
type: SiteQuality
SIO_000300: 1.207e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.355462e6

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
all individuals: 1317
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1964
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 13798
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 481
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1202
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 295
bin: 5.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 1014
allele frequency: 1.725193956717027e-2
allele num: 58776
num of homozygotes: 9

Other
type: Population
allele count: 7
allele frequency: 9.234828496042216e-3
allele num: 758
num of homozygotes: 0

South Asian
type: Population
allele count: 51
allele frequency: 5.503993093028276e-3
allele num: 9266
num of homozygotes: 2

African
type: Population
allele count: 17
allele frequency: 2.023809523809524e-3
allele num: 8400
num of homozygotes: 0

Latino
type: Population
allele count: 73
allele frequency: 6.570657065706571e-3
allele num: 11110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 44
allele frequency: 6.794317479925881e-3
allele num: 6476
num of homozygotes: 2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

DP
type: SiteQuality
SIO_000300: 1.348471e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

QD
type: SiteQuality
SIO_000300: 1.923e1

GenotypeQuality
all individuals: 1087
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1463
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.081860800576993e-3
allele num: 11092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.322e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.004e0

DP
type: SiteQuality
SIO_000300: 1.330214e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

GenotypeQuality
all individuals: 3417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5727
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1839
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.820167455405897e-4
allele num: 10988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57312
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

QD
type: SiteQuality
SIO_000300: 1.697e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.912e-1

DP
type: SiteQuality
SIO_000300: 1.30266e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.226391954868776e-4
allele num: 8154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8770
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

QD
type: SiteQuality
SIO_000300: 1.151e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.302543e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.759881735947344e-5
allele num: 56822
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.512e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.946e-1

QD
type: SiteQuality
SIO_000300: 7.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.298696e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 2.380538e6

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.44e-1

QD
type: SiteQuality
SIO_000300: 1.942e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 5
allele frequency: 5.779010633379565e-4
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 2.381126e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.313e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 3.615e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215657670799903e-4
allele num: 16452
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.996e0

DP
type: SiteQuality
SIO_000300: 2.390702e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.411e1

MQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

FS
type: SiteQuality
SIO_000300: 4.057e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.474e0

ClippingRankSum
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SIO_000300: -2.631e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.212709192335678e-4
allele num: 16492
num of homozygotes: 0

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

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

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
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: 66676
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.405e0

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

East Asian
type: Population
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: 9.609840476648087e-5
allele num: 10406
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

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

Other
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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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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11578
num of homozygotes: 0

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

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

East Asian
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allele num: 8654
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66698
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Latino
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African
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European (Finnish)
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Other
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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MQ
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DP
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 908
num of homozygotes: 0

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

East Asian
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European (Non-Finnish)
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Latino
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South Asian
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African
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Other
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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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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