http://identifiers.org/exac.variant/7-123182226-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182226
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182226
    reference: chr 7
allele count: 4
allele frequency: 3.311751751088738e-5
allele num: 120782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.284T>G
  hgvsp: ENSP00000368072.4:p.Trp96Gly
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*245T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.298T>G
  hgvsp: ENSP00000347988.2:p.Trp100Gly
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.264T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.298T>G
  hgvsp: ENSP00000417142.1:p.Trp100Gly
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.516T>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp100Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

7-123182228-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182228
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182228
    reference: chr 7
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.282T>C
  hgvsp: ENSP00000368072.4:p.Leu95Pro
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*243T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.296T>C
  hgvsp: ENSP00000347988.2:p.Leu99Pro
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.514T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.296T>C
  hgvsp: ENSP00000417142.1:p.Leu99Pro
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.262T>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu99Pro
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/7-123182235-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182235
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182235
    reference: chr 7
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.275T>G
  hgvsp: ENSP00000368072.4:p.Trp93Gly
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.289T>G
  hgvsp: ENSP00000347988.2:p.Trp97Gly
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*236T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.289T>G
  hgvsp: ENSP00000417142.1:p.Trp97Gly
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.507T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.255T>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp97Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

7-123182239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182239
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182239
    reference: chr 7
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.503G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*232G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.271G>A
  hgvsp: ENST00000378795.4:c.271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.285G>A
  hgvsp: ENST00000471770.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.251G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.285G>A
  hgvsp: ENST00000355749.2:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg95Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

7-123182240-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182240
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182240
    reference: chr 7
allele count: 6
allele frequency: 4.959169504413661e-5
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.250G>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.284G>C
  hgvsp: ENSP00000347988.2:p.Arg95Thr
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.270G>C
  hgvsp: ENSP00000368072.4:p.Arg91Thr
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.284G>C
  hgvsp: ENSP00000417142.1:p.Arg95Thr
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.502G>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*231G>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg95Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

7-123182256-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182256
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182256
    reference: chr 7
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.486C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*215C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.268C>T
  hgvsp: ENST00000471770.1:c.268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.268C>T
  hgvsp: ENST00000355749.2:c.268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.234C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.254C>T
  hgvsp: ENST00000378795.4:c.254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5416
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu90Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-123182259-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182259
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182259
    reference: chr 7
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.265A>C
  hgvsp: ENSP00000347988.2:p.Asn89His
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.251A>C
  hgvsp: ENSP00000368072.4:p.Asn85His
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.265A>C
  hgvsp: ENSP00000417142.1:p.Asn89His
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.231A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.483A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*212A>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45164
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn89His
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-123182267-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182267
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182267
    reference: chr 7
allele count: 10
allele frequency: 8.30702774547267e-5
allele num: 120380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.257A>G
  hgvsp: ENSP00000417142.1:p.His86Arg
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.243A>G
  hgvsp: ENSP00000368072.4:p.His82Arg
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.257A>G
  hgvsp: ENSP00000347988.2:p.His86Arg
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.475A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.223A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*204A>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18428
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His86Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-123182272-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182272
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182272
    reference: chr 7
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.252T>C
  hgvsp: ENST00000355749.2:c.252T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*199T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.218T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.252T>C
  hgvsp: ENST00000471770.1:c.252T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.238T>C
  hgvsp: ENST00000378795.4:c.238T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.470T>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
hgvs: c.252T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-123182277-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182277
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182277
    reference: chr 7
allele count: 3
allele frequency: 2.510208179931722e-5
allele num: 119512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*197-3C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.216-3C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.236-3C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.250-3C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.468-3C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.250-3C>T
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
hgvs: c.250-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-123182279-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182279
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182279
    reference: chr 7
allele count: 1
allele frequency: 8.392923087252828e-6
allele num: 119148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.468-5A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.250-5A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*197-5A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.236-5A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.216-5A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.250-5A>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 18154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
hgvs: c.250-5A>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-123182294-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182294
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182294
    reference: chr 7
allele count: 1
allele frequency: 8.554905382746468e-6
allele num: 116892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.216-20T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.250-20T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*197-20T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.468-20T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.236-20T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.250-20T>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16711
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/7-123182307-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182307
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182307
    reference: chr 7
allele count: 3
allele frequency: 2.598977735424066e-5
allele num: 115430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.216-33T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*197-33T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.236-33T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.250-33T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.468-33T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.250-33T>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11567
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

7-123182324-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123182324
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123182324
    reference: chr 7
allele count: 1
allele frequency: 8.947905295370353e-6
allele num: 111758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.216-50T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.250-50T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*197-50T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.250-50T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.468-50T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.236-50T>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15576
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-123185614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185614
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185614
    reference: chr 7
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*196+51C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.235+51C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.249+51C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.249+51C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.215+51C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.467+51C>T
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6068
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

7-123185620-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185620
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185620
    reference: chr 7
allele count: 16
allele frequency: 1.321898907781027e-4
allele num: 121038
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*196+45A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.249+45A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.249+45A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.467+45A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.215+45A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.235+45A>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15931
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14712
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6064
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

7-123185622-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185622
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185622
    reference: chr 7
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.467+43A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*196+43A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.249+43A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.235+43A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.215+43A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.249+43A>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6045
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-123185641-CTAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185641
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185637
    reference: chr 7
allele count: 2
allele frequency: 1.651118632873772e-5
allele num: 121130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.467+20_467+23delTTTA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*196+20_*196+23delTTTA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.215+20_215+23delTTTA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.249+20_249+23delTTTA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.235+20_235+23delTTTA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.249+20_249+23delTTTA
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14753
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: CTAAA
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-123185644-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185644
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185644
    reference: chr 7
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.235+21T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.467+21T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.249+21T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*196+21T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.249+21T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.215+21T>A
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6035
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-123185647-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185647
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185647
    reference: chr 7
allele count: 5
allele frequency: 4.127319553589117e-5
allele num: 121144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.249+18T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.467+18T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.215+18T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.235+18T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*196+18T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.249+18T>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6036
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

7-123185649-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185649
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185649
    reference: chr 7
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.467+16A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.249+16A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.215+16A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*196+16A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.249+16A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.235+16A>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9763
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

7-123185658-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185658
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185658
    reference: chr 7
allele count: 2
allele frequency: 1.650382888830209e-5
allele num: 121184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.249+7A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.249+7A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.467+7A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*196+7A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.235+7A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.215+7A>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6029
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: c.249+7A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

7-123185665-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185665
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185665
    reference: chr 7
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.279G>C
  hgvsp: ENSP00000418633.1:p.Gln93His
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.249G>C
  hgvsp: ENSP00000417142.1:p.Gln83His
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.249G>C
  hgvsp: ENSP00000347988.2:p.Gln83His
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.235G>C
  hgvsp: ENSP00000368072.4:p.Gln79His
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.215G>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.467G>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*196G>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln83His
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

7-123185677-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185677
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185676
    reference: chr 7
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.236delA
  hgvsp: ENSP00000417142.1:p.Glu79GlyfsTer2
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.266delA
  hgvsp: ENSP00000418633.1:p.Glu89GlyfsTer2
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.222delA
  hgvsp: ENSP00000368072.4:p.Glu75GlyfsTer2
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*183delA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.236delA
  hgvsp: ENSP00000347988.2:p.Glu79GlyfsTer2
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.454delA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.202delA
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu79GlyfsTer2
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: CT
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-123185682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185682
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185682
    reference: chr 7
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.198G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.450G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.232G>A
  hgvsp: ENSP00000417142.1:p.Glu78Lys
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.262G>A
  hgvsp: ENSP00000418633.1:p.Glu88Lys
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*179G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.218G>A
  hgvsp: ENSP00000368072.4:p.Glu74Lys
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.232G>A
  hgvsp: ENSP00000347988.2:p.Glu78Lys
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu78Lys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

7-123185686-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185686
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185686
    reference: chr 7
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.228A>G
  hgvsp: ENST00000355749.2:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.194A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.214A>G
  hgvsp: ENST00000378795.4:c.214A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.446A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.228A>G
  hgvsp: ENST00000471770.1:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.258A>G
  hgvsp: ENST00000470123.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*175A>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6024
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln76Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-123185691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185691
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185691
    reference: chr 7
allele count: 7
allele frequency: 5.777293585553465e-5
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.223G>A
  hgvsp: ENSP00000347988.2:p.Gly75Ser
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.253G>A
  hgvsp: ENSP00000418633.1:p.Gly85Ser
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.441G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.189G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.223G>A
  hgvsp: ENSP00000417142.1:p.Gly75Ser
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.209G>A
  hgvsp: ENSP00000368072.4:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16273
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6026
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Gly75Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

7-123185692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185692
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185692
    reference: chr 7
allele count: 2
allele frequency: 1.650600818698006e-5
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.222C>T
  hgvsp: ENST00000471770.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.440C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.208C>T
  hgvsp: ENST00000378795.4:c.208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.188C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.252C>T
  hgvsp: ENST00000470123.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*169C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.222C>T
  hgvsp: ENST00000355749.2:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly74Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

7-123185694-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185694
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185694
    reference: chr 7
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.186G>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.220G>C
  hgvsp: ENSP00000347988.2:p.Gly74Arg
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.220G>C
  hgvsp: ENSP00000417142.1:p.Gly74Arg
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.438G>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.206G>C
  hgvsp: ENSP00000368072.4:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*167G>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.250G>C
  hgvsp: ENSP00000418633.1:p.Gly84Arg
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14755
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6018
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly74Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

7-123185696-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185696
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185696
    reference: chr 7
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.436A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.248A>C
  hgvsp: ENSP00000418633.1:p.Gln83Pro
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.218A>C
  hgvsp: ENSP00000417142.1:p.Gln73Pro
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.218A>C
  hgvsp: ENSP00000347988.2:p.Gln73Pro
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.204A>C
  hgvsp: ENSP00000368072.4:p.Gln69Pro
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*165A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.184A>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6017
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln73Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-123185698-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185698
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185698
    reference: chr 7
allele count: 2
allele frequency: 1.651118632873772e-5
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.216T>A
  hgvsp: ENST00000471770.1:c.216T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.182T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.216T>A
  hgvsp: ENST00000355749.2:c.216T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.434T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.202T>A
  hgvsp: ENST00000378795.4:c.202T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*163T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.246T>A
  hgvsp: ENST00000470123.1:c.246T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu72Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

7-123185702-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185702
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185702
    reference: chr 7
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.198A>T
  hgvsp: ENSP00000368072.4:p.Gln67Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.212A>T
  hgvsp: ENSP00000417142.1:p.Gln71Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.430A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.242A>T
  hgvsp: ENSP00000418633.1:p.Gln81Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.212A>T
  hgvsp: ENSP00000347988.2:p.Gln71Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.178A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*159A>T
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6016
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln71Leu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

7-123185721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185721
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185721
    reference: chr 7
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.193G>A
  hgvsp: ENSP00000417142.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.223G>A
  hgvsp: ENSP00000418633.1:p.Val75Ile
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*140G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.411G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.159G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.193G>A
  hgvsp: ENSP00000347988.2:p.Val65Ile
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.179G>A
  hgvsp: ENSP00000368072.4:p.Val61Ile
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val65Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

7-123185722-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185722
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185722
    reference: chr 7
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.158T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.192T>C
  hgvsp: ENST00000471770.1:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*139T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.192T>C
  hgvsp: ENST00000355749.2:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.178T>C
  hgvsp: ENST00000378795.4:c.178T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.222T>C
  hgvsp: ENST00000470123.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.410T>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp64Asp
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

7-123185726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185726
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185726
    reference: chr 7
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.154C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.188C>T
  hgvsp: ENSP00000417142.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.174C>T
  hgvsp: ENSP00000368072.4:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.218C>T
  hgvsp: ENSP00000418633.1:p.Pro73Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.188C>T
  hgvsp: ENSP00000347988.2:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.406C>T
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34390
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro63Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

7-123185737-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185737
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185737
    reference: chr 7
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-7A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-7A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*131-7A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-7A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-7A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-7A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.143A>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9527
  bin: 6.75e1
  variant carriers: 0
hgvs: c.184-7A>C
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

7-123185739-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185739
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185739
    reference: chr 7
allele count: 2
allele frequency: 1.6679454248257e-5
allele num: 119908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.141A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-9A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-9A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-9A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*131-9A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-9A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-9A>T
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6010
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

7-123185740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185740
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185740
    reference: chr 7
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.140G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-10G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-10G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-10G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-10G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*131-10G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-10G>A
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

7-123185745-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185745
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185746
    reference: chr 7
allele count: 1
allele frequency: 8.359806052499582e-6
allele num: 119620
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-16dupC
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-16dupC
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.134dupC
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*131-16dupC
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-16dupC
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-16dupC
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-16dupC
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

7-123185756-TAAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185756
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185752
    reference: chr 7
allele count: 2
allele frequency: 1.681718043152885e-5
allele num: 118926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-30_214-27delCTTT
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*131-30_*131-27delCTTT
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-30_184-27delCTTT
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-30_402-27delCTTT
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-30_184-27delCTTT
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-30_170-27delCTTT
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.120_123delCTTT
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5912
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: TAAAG
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

7-123185765-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185765
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185765
    reference: chr 7
allele count: 1
allele frequency: 8.444662129068216e-6
allele num: 118418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-35T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-35T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-35T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.115T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-35T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-35T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*131-35T>C
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

7-123185772-CTGAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185772
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185768
    reference: chr 7
allele count: 4
allele frequency: 3.40849054995995e-5
allele num: 117354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-46_170-43delTTCA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-46_214-43delTTCA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*131-46_*131-43delTTCA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.104_107delTTCA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-46_184-43delTTCA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-46_402-43delTTCA
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-46_184-43delTTCA
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: CTGAA
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-123185777-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185777
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185777
    reference: chr 7
allele count: 444
allele frequency: 3.865642793710495e-3
allele num: 114858
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-47A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-47A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.103A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-47A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*131-47A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-47A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-47A>C
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 3.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 1.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 3.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 2.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 1.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9519
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7006
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 9
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum

7-123185778-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185778
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185778
    reference: chr 7
allele count: 1
allele frequency: 8.71368571478364e-6
allele num: 114762
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-48C>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-48C>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.102C>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-48C>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-48C>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*131-48C>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-48C>A
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

7-123185782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123185782
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123185782
    reference: chr 7
allele count: 1
allele frequency: 9.222880121004187e-6
allele num: 108426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-52G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-52G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-52G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*131-52G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-52G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-52G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000459880
  gene symbol: NDUFA5
  hgvsc: ENST00000459880.1:n.98G>A
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5532
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/7-123186814-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123186814
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123186814
    reference: chr 7
allele count: 1
allele frequency: 8.127438231469441e-5
allele num: 12304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-1084G>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-1084G>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.*28G>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-1084G>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-1084G>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-1084G>T
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

7-123186853-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123186853
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123186853
    reference: chr 7
allele count: 1
allele frequency: 8.239947264337508e-5
allele num: 12136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-1123A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-1123A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-1123A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-1123A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-1123A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.202A>T
  hgvsp: ENSP00000417331.1:p.Ile68Phe
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile68Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

7-123186859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123186859
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123186859
    reference: chr 7
allele count: 36
allele frequency: 2.984579671696236e-3
allele num: 12062
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-1129C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-1129C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-1129C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-1129C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.196C>T
  hgvsp: ENSP00000417331.1:p.Gln66Ter
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-1129C>T
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln66Ter
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

7-123186865-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123186865
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123186865
    reference: chr 7
allele count: 7
allele frequency: 5.885320329577938e-4
allele num: 11894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-1135A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.190A>C
  hgvsp: ENSP00000417331.1:p.Ile64Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-1135A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-1135A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-1135A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-1135A>C
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile64Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/7-123186886-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123186886
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123186886
    reference: chr 7
allele count: 1
allele frequency: 8.962179602079225e-5
allele num: 11158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.184-15T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-1156T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-1156T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-1156T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-1156T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-1156T>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

7-123186898-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123186898
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123186898
    reference: chr 7
allele count: 7
allele frequency: 6.520119225037258e-4
allele num: 10736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-1168A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-1168A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.184-27A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-1168A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-1168A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-1168A>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-123186898-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123186898
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123186898
    reference: chr 7
allele count: 1
allele frequency: 9.314456035767511e-5
allele num: 10736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-1168A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-1168A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-1168A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-1168A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-1168A>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.184-27A>T
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

7-123186911-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123186911
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123186911
    reference: chr 7
allele count: 2
allele frequency: 1.996805111821086e-4
allele num: 10016
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-1181T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-1181T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-1181T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.184-40T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-1181T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-1181T>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-123186913-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123186913
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123186913
    reference: chr 7
allele count: 2
allele frequency: 1.99203187250996e-4
allele num: 10040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-1183T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-1183T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.184-42T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-1183T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-1183T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-1183T>C
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-123186916-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123186916
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123186916
    reference: chr 7
allele count: 1
allele frequency: 1.029018316526034e-4
allele num: 9718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.214-1186G>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.170-1186G>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.184-1186G>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.184-1186G>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.402-1186G>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.184-45G>T
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum

7-123190477-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190477
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190477
    reference: chr 7
allele count: 1
allele frequency: 4.974629390110437e-5
allele num: 20102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.183+47A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.401+47A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.183+47A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.253A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.183+47A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.213+47A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.448A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.169+47A>G
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48529
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

7-123190490-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190490
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190490
    reference: chr 7
allele count: 1
allele frequency: 1.030078285949732e-4
allele num: 9708
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.183+34A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.240A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.183+34A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.435A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.169+34A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.401+34A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.183+34A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.213+34A>G
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

7-123190493-A-ACTGGATACCACAAATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190493
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190509
    reference: chr 7
allele count: 91712
allele frequency: 7.636303080766028e-1
allele num: 120100
alternate allele: ACTGGATACCACAAATC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 8.75e1
  variant carriers: 876
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 3.75e1
  variant carriers: 5879
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.75e1
  variant carriers: 1920
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.25e1
  variant carriers: 6106
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 752
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.75e1
  variant carriers: 4776
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 5.25e1
  variant carriers: 3989
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 9.75e1
  variant carriers: 5039
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 2.75e1
  variant carriers: 5292
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 1801
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 832
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 1391
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 5217
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 5.75e1
  variant carriers: 3442
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 8.25e1
  variant carriers: 1159
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 6.75e1
  variant carriers: 2209
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 2.25e1
  variant carriers: 3777
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 6.25e1
  variant carriers: 2775
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 172
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 8.25e1
  variant carriers: 1705
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 131
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 246
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 5.25e1
  variant carriers: 782
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.75e1
  variant carriers: 1639
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.25e1
  variant carriers: 523
genotype quality: GenotypeQuality
  all individuals: 43150
  bin: 9.75e1
  variant carriers: 42030
num of homozygotes: 34702
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-123190493-A-AGTGGATACCACAAATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190493
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190509
    reference: chr 7
allele count: 3
allele frequency: 2.497918401332223e-5
allele num: 120100
alternate allele: AGTGGATACCACAAATC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

7-123190495-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190495
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190495
    reference: chr 7
allele count: 7
allele frequency: 2.367904742574927e-4
allele num: 29562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.235T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.169+29T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.183+29T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.183+29T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.430T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.401+29T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.183+29T>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.213+29T>A
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

7-123190496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190496
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190496
    reference: chr 7
allele count: 10
allele frequency: 3.347840642785404e-4
allele num: 29870
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.183+28T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.183+28T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.213+28T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.234T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.429T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.401+28T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.183+28T>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.169+28T>C
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

7-123190499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190499
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190499
    reference: chr 7
allele count: 12
allele frequency: 2.998500749625187e-4
allele num: 40020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.213+25G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.183+25G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.401+25G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.231G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.169+25G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.426G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.183+25G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.183+25G>A
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38545
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/7-123190501-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190501
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190501
    reference: chr 7
allele count: 3
allele frequency: 7.20634158059092e-5
allele num: 41630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.183+23T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.401+23T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.229T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.424T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.183+23T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.213+23T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.169+23T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.183+23T>G
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

7-123190502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190502
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190502
    reference: chr 7
allele count: 9
allele frequency: 7.431506283751424e-5
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.228G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.183+22G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.183+22G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.183+22G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.401+22G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.169+22G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.423G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.213+22G>A
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35366
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-123190504-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190504
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190504
    reference: chr 7
allele count: 2
allele frequency: 3.949759064697053e-5
allele num: 50636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.183+20T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.213+20T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.226T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.183+20T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.421T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.183+20T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.401+20T>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.169+20T>G
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32856
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

7-123190507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190507
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190507
    reference: chr 7
allele count: 1
allele frequency: 1.601024655779699e-5
allele num: 62460
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.183+17G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.183+17G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.418G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.169+17G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.401+17G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.223G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.213+17G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.183+17G>A
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

7-123190511-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190511
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190511
    reference: chr 7
allele count: 61
allele frequency: 6.602446152180972e-4
allele num: 92390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.183+13G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.414G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.169+13G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.219G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.183+13G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.183+13G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.213+13G>A
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.401+13G>A
  variant of: http://identifiers.org/hgnc/7688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-123190525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190525
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190525
    reference: chr 7
allele count: 3
allele frequency: 2.476350849388341e-5
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.212C>T
  hgvsp: ENSP00000418633.1:p.Ala71Val
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.182C>T
  hgvsp: ENSP00000347988.2:p.Ala61Val
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.400C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.182C>T
  hgvsp: ENSP00000417331.1:p.Ala61Val
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.400C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.168C>T
  hgvsp: ENSP00000368072.4:p.Ala57Val
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.205C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.182C>T
  hgvsp: ENSP00000417142.1:p.Ala61Val
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala61Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

7-123190532-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190532
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190532
    reference: chr 7
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.205G>C
  hgvsp: ENSP00000418633.1:p.Val69Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.175G>C
  hgvsp: ENSP00000417142.1:p.Val59Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.175G>C
  hgvsp: ENSP00000417331.1:p.Val59Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.198G>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.175G>C
  hgvsp: ENSP00000347988.2:p.Val59Leu
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.393G>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.393G>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.161G>C
  hgvsp: ENSP00000368072.4:p.Val55Leu
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8959
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val59Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

7-123190543-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190543
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190543
    reference: chr 7
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.164A>G
  hgvsp: ENSP00000347988.2:p.Lys55Arg
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.382A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.164A>G
  hgvsp: ENSP00000417331.1:p.Lys55Arg
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.194A>G
  hgvsp: ENSP00000418633.1:p.Lys65Arg
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.150A>G
  hgvsp: ENSP00000368072.4:p.Lys51Arg
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.164A>G
  hgvsp: ENSP00000417142.1:p.Lys55Arg
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.187A>G
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.382A>G
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys55Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

7-123190552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190552
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190552
    reference: chr 7
allele count: 2
allele frequency: 1.650410126916539e-5
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.155C>T
  hgvsp: ENSP00000417331.1:p.Thr52Ile
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.141C>T
  hgvsp: ENSP00000368072.4:p.Thr48Ile
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.155C>T
  hgvsp: ENSP00000347988.2:p.Thr52Ile
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.155C>T
  hgvsp: ENSP00000417142.1:p.Thr52Ile
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.373C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.373C>T
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.185C>T
  hgvsp: ENSP00000418633.1:p.Thr62Ile
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.178C>T
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8956
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr52Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

7-123190553-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123190553
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 123190553
    reference: chr 7
allele count: 4
allele frequency: 3.300547890949898e-5
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000347988
  ensembl transcript: ENST00000355749
  gene symbol: NDUFA5
  hgvsc: ENST00000355749.2:c.154A>C
  hgvsp: ENSP00000347988.2:p.Thr52Pro
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000418633
  ensembl transcript: ENST00000470123
  gene symbol: NDUFA5
  hgvsc: ENST00000470123.1:c.184A>C
  hgvsp: ENSP00000418633.1:p.Thr62Pro
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417142
  ensembl transcript: ENST00000471770
  gene symbol: NDUFA5
  hgvsc: ENST00000471770.1:c.154A>C
  hgvsp: ENSP00000417142.1:p.Thr52Pro
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000368072
  ensembl transcript: ENST00000378795
  gene symbol: NDUFA5
  hgvsc: ENST00000378795.4:c.140A>C
  hgvsp: ENSP00000368072.4:p.Thr48Pro
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000492549
  gene symbol: NDUFA5
  hgvsc: ENST00000492549.1:n.177A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000467117
  gene symbol: NDUFA5
  hgvsc: ENST00000467117.1:n.372A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000128609
  ensembl transcript: ENST00000491033
  gene symbol: NDUFA5
  hgvsc: ENST00000491033.1:n.372A>C
  variant of: http://identifiers.org/hgnc/7688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000128609
  ensembl protein: ENSP00000417331
  ensembl transcript: ENST00000466896
  gene symbol: NDUFA5
  hgvsc: ENST00000466896.1:c.154A>C
  hgvsp: ENSP00000417331.1:p.Thr52Pro
  variant of: http://identifiers.org/hgnc/7688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr52Pro
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5383
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1349
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.549907005579665e-4
allele num: 6452
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: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513178481165002e-5
allele num: 66472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.728e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e0

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

FS
type: SiteQuality
SIO_000300: 1.46436e2

DP
type: SiteQuality
SIO_000300: 1.812106e6

VQSLOD
type: SiteQuality
SIO_000300: -1.039e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.891e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.873e0

GenotypeQuality
all individuals: 254
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45394
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4782
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

DP
type: SiteQuality
SIO_000300: 1.806455e6

MQ
type: SiteQuality
SIO_000300: 5.757e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.48e0

FS
type: SiteQuality
SIO_000300: 4.014e0

QD
type: SiteQuality
SIO_000300: 9.08e0

GenotypeQuality
all individuals: 45332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4740
bin: 9.75e1
variant carriers: 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: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.8073e6

FS
type: SiteQuality
SIO_000300: 1.03649e2

QD
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.005e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.45e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

VQSLOD
type: SiteQuality
SIO_000300: -5.036e1

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4749
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 932
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 7.25e1
variant carriers: 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: 16504
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: 6576
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

QD
type: SiteQuality
SIO_000300: 6.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.728e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

DP
type: SiteQuality
SIO_000300: 1.805448e6

FS
type: SiteQuality
SIO_000300: 1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

GenotypeQuality
all individuals: 4752
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45385
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.562043795620438e-4
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.5092439500977e-5
allele num: 66530
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 1.805541e6

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 6.351e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.794e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45271
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
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variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
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: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e0

DP
type: SiteQuality
SIO_000300: 1.803645e6

MQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

FS
type: SiteQuality
SIO_000300: 6.032e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

VQSLOD
type: SiteQuality
SIO_000300: -1.387e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.088e1

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4743
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

East Asian
type: Population
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

FS
type: SiteQuality
SIO_000300: 1.703e0

DP
type: SiteQuality
SIO_000300: 1.802347e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 9.35e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -1.046e0

MQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4750
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 567
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5299
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.360256332748927e-4
allele num: 66164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.753501400560224e-5
allele num: 11424
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

FS
type: SiteQuality
SIO_000300: 3.346e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

DP
type: SiteQuality
SIO_000300: 1.795606e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.968e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

GenotypeQuality
all individuals: 5285
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4744
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-5
allele num: 66040
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.281e0

VQSLOD
type: SiteQuality
SIO_000300: -1.578e0

DP
type: SiteQuality
SIO_000300: 1.791382e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.351e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

QD
type: SiteQuality
SIO_000300: 1.173e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4745
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.512058066026691e-4
allele num: 8542
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e0

DP
type: SiteQuality
SIO_000300: 1.778766e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.015e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65412
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.819897689186806e-5
allele num: 11338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 3.444e1

MQRankSum
type: SiteQuality
SIO_000300: -1.156e0

QD
type: SiteQuality
SIO_000300: 3.083e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.770531e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 3.0965e1

VQSLOD
type: SiteQuality
SIO_000300: -9.978999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.542e0

GenotypeQuality
all individuals: 315
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5735
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
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variant carriers: 0

GenotypeQuality
all individuals: 348
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variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56289072268067e-5
allele num: 63984
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

DP
type: SiteQuality
SIO_000300: 1.691346e6

MQ
type: SiteQuality
SIO_000300: 5.773e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 4744
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 493
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variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.751948298802509e-5
allele num: 63132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 1.574444e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.502e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.06e0

QD
type: SiteQuality
SIO_000300: 1.567e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

GenotypeQuality
all individuals: 3491
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6028
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643007360672976e-5
allele num: 60864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10838
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.478802e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.415e0

VQSLOD
type: SiteQuality
SIO_000300: -7.937e-1

QD
type: SiteQuality
SIO_000300: 9.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

DP
type: SiteQuality
SIO_000300: 2.202535e6

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

QD
type: SiteQuality
SIO_000300: 1.397e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.129e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 292
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variant carriers: 0

GenotypeQuality
all individuals: 2995
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GenotypeQuality
all individuals: 1409
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 15
allele frequency: 1.737317581653926e-3
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.533e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

DP
type: SiteQuality
SIO_000300: 2.203353e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 33625
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variant carriers: 0

GenotypeQuality
all individuals: 9779
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variant carriers: 0

GenotypeQuality
all individuals: 1407
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GenotypeQuality
all individuals: 2189
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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: 904
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.20378e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.58e1

VQSLOD
type: SiteQuality
SIO_000300: -1.894e0

FS
type: SiteQuality
SIO_000300: 4.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
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variant carriers: 0

GenotypeQuality
all individuals: 34775
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 1394
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variant carriers: 0

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

GenotypeQuality
all individuals: 2907
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

DP
type: SiteQuality
SIO_000300: 2.209193e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.749e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 2355
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.92e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

DP
type: SiteQuality
SIO_000300: 2.209538e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 881
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.50683121640693e-5
allele num: 66606
num of homozygotes: 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: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.133e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.21005e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 22
bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 6031
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 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: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.176e-1

QD
type: SiteQuality
SIO_000300: 1.583e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.209922e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

GenotypeQuality
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bin: 2.75e1
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001380635092142e-5
allele num: 66636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 6600
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

DP
type: SiteQuality
SIO_000300: 2.210455e6

BaseQRankSum
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SIO_000300: 2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

FS
type: SiteQuality
SIO_000300: 6.07e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500600240096038e-5
allele num: 66640
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East Asian
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQ
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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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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East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11498
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66644
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

MQ
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 2.210582e6

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6598
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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East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
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Latino
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allele count: 0
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allele num: 11494
num of homozygotes: 0

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

Other
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.57e-1

InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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MQ
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SIO_000300: 5.856e1

QD
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BaseQRankSum
type: SiteQuality
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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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South Asian
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allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11492
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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East Asian
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allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 7.503226387346559e-5
allele num: 66638
num of homozygotes: 0

MQ
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FS
type: SiteQuality
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QD
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BaseQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

ClippingRankSum
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DP
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001200480192077e-5
allele num: 66640
num of homozygotes: 0

European (Finnish)
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.908e1

ReadPosRankSum
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DP
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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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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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11492
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66638
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Other
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allele num: 904
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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ReadPosRankSum
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MQ
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MQRankSum
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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VQSLOD
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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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Other
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South Asian
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East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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BaseQRankSum
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QD
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MQRankSum
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DP
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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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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Latino
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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African
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Other
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66600
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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DP
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SIO_000300: 2.207936e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.612e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.823182711198428e-5
allele num: 10180
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.200265e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

VQSLOD
type: SiteQuality
SIO_000300: -1.429e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.264e0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 7.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.738e1

GenotypeQuality
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bin: 3.75e1
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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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.759e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e0

DP
type: SiteQuality
SIO_000300: 2.200287e6

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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.932e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.528e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.196529e6

QD
type: SiteQuality
SIO_000300: 1.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

GenotypeQuality
all individuals: 33562
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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6010
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.182646e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

FS
type: SiteQuality
SIO_000300: 2.624e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

QD
type: SiteQuality
SIO_000300: 1.642e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2282
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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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variant carriers: 0

GenotypeQuality
all individuals: 33367
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GenotypeQuality
all individuals: 872
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.025627061208436e-5
allele num: 66102
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.6e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.17977e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

FS
type: SiteQuality
SIO_000300: 4.707e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513912859175826e-5
allele num: 66054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.132e1

DP
type: SiteQuality
SIO_000300: 2.177874e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51666818333485e-5
allele num: 65934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 4.028e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.649e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.232e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.024e1

DP
type: SiteQuality
SIO_000300: 2.169668e6

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.217285453438831e-4
allele num: 16430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.578e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.97e-1

FS
type: SiteQuality
SIO_000300: 1.347e0

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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bin: 2.25e1
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65214
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.163e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
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QD
type: SiteQuality
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BaseQRankSum
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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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.645401052957572e-5
allele num: 64580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.104260774020266e-5
allele num: 16382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.998155e6

MQRankSum
type: SiteQuality
SIO_000300: -2.324e0

QD
type: SiteQuality
SIO_000300: 5.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.395e1

FS
type: SiteQuality
SIO_000300: 7.828e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

GenotypeQuality
all individuals: 174
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1603
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6242
bin: 9.75e1
variant carriers: 421

GenotypeQuality
all individuals: 1315
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 11491
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4902
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variant carriers: 2

GenotypeQuality
all individuals: 1289
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3009
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 814
bin: 8.75e1
variant carriers: 3

East Asian
type: Population
allele count: 1
allele frequency: 1.251877816725087e-4
allele num: 7988
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.843884449907806e-4
allele num: 16270
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.15473441108545e-3
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

African
type: Population
allele count: 415
allele frequency: 4.466207490314249e-2
allele num: 9292
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.432117624594233e-4
allele num: 62844
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.346015793251974e-3
allele num: 11144
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

DP
type: SiteQuality
SIO_000300: 1.936252e6

QD
type: SiteQuality
SIO_000300: 1.594e1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

MQ
type: SiteQuality
SIO_000300: 5.877e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

GenotypeQuality
all individuals: 813
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4930
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1260
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variant carriers: 0

GenotypeQuality
all individuals: 11737
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GenotypeQuality
all individuals: 1935
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variant carriers: 0

GenotypeQuality
all individuals: 2166
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variant carriers: 0

GenotypeQuality
all individuals: 7093
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variant carriers: 0

GenotypeQuality
all individuals: 5846
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592204566442697e-5
allele num: 62806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9220
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.352e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.934424e6

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
all individuals: 5766
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
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variant carriers: 0

GenotypeQuality
all individuals: 4239
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variant carriers: 0

GenotypeQuality
all individuals: 4785
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variant carriers: 0

GenotypeQuality
all individuals: 804
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variant carriers: 0

GenotypeQuality
all individuals: 1891
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variant carriers: 0

GenotypeQuality
all individuals: 5844
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variant carriers: 1

GenotypeQuality
all individuals: 2876
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58782
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.40379913485048e-5
allele num: 10634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15802
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.799e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.507e0

QD
type: SiteQuality
SIO_000300: 1.368e1

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

DP
type: SiteQuality
SIO_000300: 1.907258e6

MQ
type: SiteQuality
SIO_000300: 6.054e1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.771618625277162e-4
allele num: 3608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

DP
type: SiteQuality
SIO_000300: 1.77856e5

FS
type: SiteQuality
SIO_000300: 1.984e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.628e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.071e1

GenotypeQuality
all individuals: 1293
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4074
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3693e1

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.869e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.168e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

QD
type: SiteQuality
SIO_000300: 7.43e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

DP
type: SiteQuality
SIO_000300: 1.72589e5

GenotypeQuality
all individuals: 250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 884
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 212
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 35
allele frequency: 6.25e-2
allele num: 560
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3498
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.8125e-3
allele num: 128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

FS
type: SiteQuality
SIO_000300: 6.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.693e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 1.70666e5

QD
type: SiteQuality
SIO_000300: 1.462e1

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3424
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 9.462016761286835e-4
allele num: 7398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 1.64382e5

QD
type: SiteQuality
SIO_000300: 1.375e1

VQSLOD
type: SiteQuality
SIO_000300: -3.533e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.824817518248175e-3
allele num: 548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.33179e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e-1

FS
type: SiteQuality
SIO_000300: 2.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.094e0

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 7.5e0
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GenotypeQuality
all individuals: 135
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GenotypeQuality
all individuals: 60
bin: 5.25e1
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GenotypeQuality
all individuals: 469
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GenotypeQuality
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.75e1
variant carriers: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 1.054534498342874e-3
allele num: 6638
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

DP
type: SiteQuality
SIO_000300: 1.12527e5

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

FS
type: SiteQuality
SIO_000300: 3.611e0

QD
type: SiteQuality
SIO_000300: 1.382e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.601e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

GenotypeQuality
all individuals: 469
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
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GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.831501831501832e-3
allele num: 546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.382e1

DP
type: SiteQuality
SIO_000300: 1.12527e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.601e0

FS
type: SiteQuality
SIO_000300: 3.611e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

GenotypeQuality
all individuals: 1004
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.258390355164549e-4
allele num: 6138
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.96e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.5e-3

QD
type: SiteQuality
SIO_000300: 1.321e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.01788e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.447e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeQuality
all individuals: 1407
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 396
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.10204081632653e-3
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.08695652173913e-2
allele num: 92
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e0

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.024e0

QD
type: SiteQuality
SIO_000300: 1.677e1

FS
type: SiteQuality
SIO_000300: 9.09e-1

DP
type: SiteQuality
SIO_000300: 1.01684e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

GenotypeQuality
all individuals: 692
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.610108303249097e-4
allele num: 2770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

QD
type: SiteQuality
SIO_000300: 1.62e1

DP
type: SiteQuality
SIO_000300: 1.01022e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

GenotypeQuality
all individuals: 604
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.425070688030161e-5
allele num: 10610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3032
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.923874e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQ
type: SiteQuality
SIO_000300: 3.653e1

VQSLOD
type: SiteQuality
SIO_000300: 1.496e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -1.032e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.518e-1

QD
type: SiteQuality
SIO_000300: 8.51e0

GenotypeQuality
all individuals: 373
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.693440428380187e-4
allele num: 1494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1422
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.859e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 3.226194e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.28e0

QD
type: SiteQuality
SIO_000300: 1.731e1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e0

MQ
type: SiteQuality
SIO_000300: 5.602e1

GenotypeQuality
all individuals: 88
bin: 1.25e1
variant carriers: 83

GenotypeQuality
all individuals: 1639
bin: 6.75e1
variant carriers: 1332

GenotypeQuality
all individuals: 2062
bin: 6.25e1
variant carriers: 1250

GenotypeQuality
all individuals: 697
bin: 4.75e1
variant carriers: 693

GenotypeQuality
all individuals: 1655
bin: 7.25e1
variant carriers: 1513

GenotypeQuality
all individuals: 1033
bin: 5.75e1
variant carriers: 1031

GenotypeQuality
all individuals: 409
bin: 3.75e1
variant carriers: 408

GenotypeQuality
all individuals: 1907
bin: 8.75e1
variant carriers: 1812

GenotypeQuality
all individuals: 317
bin: 3.25e1
variant carriers: 307

GenotypeQuality
all individuals: 1888
bin: 9.25e1
variant carriers: 1739

Other
type: Population
allele count: 681
allele frequency: 7.549889135254989e-1
allele num: 902
num of homozygotes: 258

European (Non-Finnish)
type: Population
allele count: 51030
allele frequency: 7.733693016488846e-1
allele num: 65984
num of homozygotes: 19490

East Asian
type: Population
allele count: 5490
allele frequency: 6.41955098222638e-1
allele num: 8552
num of homozygotes: 1697

South Asian
type: Population
allele count: 12113
allele frequency: 7.35279834891344e-1
allele num: 16474
num of homozygotes: 4459

African
type: Population
allele count: 8461
allele frequency: 8.270772238514174e-1
allele num: 10230
num of homozygotes: 3492

European (Finnish)
type: Population
allele count: 5253
allele frequency: 8.010064043915828e-1
allele num: 6558
num of homozygotes: 2074

Latino
type: Population
allele count: 8684
allele frequency: 7.617543859649123e-1
allele num: 11400
num of homozygotes: 3232

MQ
type: SiteQuality
SIO_000300: 3.529e1

FS
type: SiteQuality
SIO_000300: 7.003e0

MQRankSum
type: SiteQuality
SIO_000300: -5.139e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

QD
type: SiteQuality
SIO_000300: 5.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

DP
type: SiteQuality
SIO_000300: 3.264802e6

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43150
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1033
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.932551319648094e-4
allele num: 10230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65984
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

FS
type: SiteQuality
SIO_000300: 7.003e0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.139e0

MQ
type: SiteQuality
SIO_000300: 3.529e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

DP
type: SiteQuality
SIO_000300: 3.264802e6

QD
type: SiteQuality
SIO_000300: 5.93e0

GenotypeQuality
all individuals: 445
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.5e0
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GenotypeQuality
all individuals: 703
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GenotypeQuality
all individuals: 42901
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GenotypeQuality
all individuals: 383
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variant carriers: 0

GenotypeQuality
all individuals: 605
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variant carriers: 0

GenotypeQuality
all individuals: 403
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variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.002004008016032e-3
allele num: 1996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 3.197339813275355e-4
allele num: 15638
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.194e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 3.169e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.442e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.071227e6

MQRankSum
type: SiteQuality
SIO_000300: -1.732e0

GenotypeQuality
all individuals: 504
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
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variant carriers: 0

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

GenotypeQuality
all individuals: 592
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42798
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
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variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 4.428137651821862e-4
allele num: 15808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2624
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.474926253687316e-3
allele num: 2034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3286
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 4.874e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.386e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.178e-1

QD
type: SiteQuality
SIO_000300: 2.372e1

DP
type: SiteQuality
SIO_000300: 3.050422e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
all individuals: 621
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2062
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variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
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GenotypeQuality
all individuals: 1204
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GenotypeQuality
all individuals: 612
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GenotypeQuality
all individuals: 592
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variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 4.242481380220609e-4
allele num: 21214
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.075268817204301e-3
allele num: 2790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.903e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

MQ
type: SiteQuality
SIO_000300: 4.885e1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

DP
type: SiteQuality
SIO_000300: 3.112507e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

GenotypeQuality
all individuals: 37700
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.979078746520607e-5
allele num: 22274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4266
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.320053120849933e-4
allele num: 3012
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.66e0

QD
type: SiteQuality
SIO_000300: 8.01e0

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.673e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.848e-1

MQ
type: SiteQuality
SIO_000300: 4.26e1

DP
type: SiteQuality
SIO_000300: 3.145385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.085e0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3099
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2931
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.453884377651194e-4
allele num: 16502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.218e1

VQSLOD
type: SiteQuality
SIO_000300: -2.568e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

DP
type: SiteQuality
SIO_000300: 3.254742e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.929e0

FS
type: SiteQuality
SIO_000300: 3.942e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.608e0

QD
type: SiteQuality
SIO_000300: 1.019e1

GenotypeQuality
all individuals: 769
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
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variant carriers: 0

GenotypeQuality
all individuals: 1576
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variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
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variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.304068366079907e-5
allele num: 27382
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.513e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.578e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

DP
type: SiteQuality
SIO_000300: 3.143621e6

MQ
type: SiteQuality
SIO_000300: 4.16e1

GenotypeQuality
all individuals: 1949
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
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variant carriers: 0

GenotypeQuality
all individuals: 4949
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variant carriers: 1

GenotypeQuality
all individuals: 802
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7732
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.949156541229209e-5
allele num: 33908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.238e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

FS
type: SiteQuality
SIO_000300: 1.005e0

MQ
type: SiteQuality
SIO_000300: 5.406e1

QD
type: SiteQuality
SIO_000300: 6.18e0

DP
type: SiteQuality
SIO_000300: 3.090542e6

GenotypeQuality
all individuals: 5997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11400
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1759
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variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12331
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variant carriers: 1

GenotypeQuality
all individuals: 1354
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GenotypeQuality
all individuals: 1493
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variant carriers: 0

GenotypeQuality
all individuals: 418
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variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3094
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variant carriers: 0

GenotypeQuality
all individuals: 668
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variant carriers: 0

GenotypeQuality
all individuals: 6513
bin: 9.75e1
variant carriers: 60

South Asian
type: Population
allele count: 1
allele frequency: 7.59762953958365e-5
allele num: 13162
num of homozygotes: 0

African
type: Population
allele count: 50
allele frequency: 6.47332988089073e-3
allele num: 7724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4462
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.654410053525716e-4
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.92772615360178e-5
allele num: 50364
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.470588235294118e-3
allele num: 680
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.436e0

DP
type: SiteQuality
SIO_000300: 2.851481e6

FS
type: SiteQuality
SIO_000300: 5.54e-1

MQ
type: SiteQuality
SIO_000300: 4.238e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.975e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.09e-1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.23e-2

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5234
bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 22
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 2585
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 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: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.50954e6

VQSLOD
type: SiteQuality
SIO_000300: -1.363e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.121e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.169e1

FS
type: SiteQuality
SIO_000300: 5.92e0

MQ
type: SiteQuality
SIO_000300: 5.233e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

GenotypeQuality
all individuals: 5548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 31
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3829
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2467
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
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: 10382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: -7.375e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 5.062e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.67e0

QD
type: SiteQuality
SIO_000300: 1.629e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 2.508495e6

MQ
type: SiteQuality
SIO_000300: 5.185e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 10206
bin: 6.75e1
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: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
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: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.508759e6

MQRankSum
type: SiteQuality
SIO_000300: 2.16e0

FS
type: SiteQuality
SIO_000300: 1.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 1.791e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.308e1

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10202
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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: 35
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 2463
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 5525
bin: 7.25e1
variant carriers: 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: 8638
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001200480192077e-5
allele num: 66640
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.999e0

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

MQ
type: SiteQuality
SIO_000300: 4.896e1

VQSLOD
type: SiteQuality
SIO_000300: -6.867e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 1.929e0

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

DP
type: SiteQuality
SIO_000300: 2.508804e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-1

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2571
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5180
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5525
bin: 7.25e1
variant carriers: 0