11-67379550-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379550
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379550
    reference: chr 11
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.427-41T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*165-41T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.505-41T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1446-41T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.370-41T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.361T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.860-41T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1136-41T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1142-41T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1163-41T>C
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

11-67379556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379556
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379556
    reference: chr 11
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*165-35G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.427-35G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.860-35G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1163-35G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1446-35G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.367G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.370-35G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1142-35G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1136-35G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.505-35G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS

11-67379558-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379558
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379557
    reference: chr 11
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1142-32delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.370delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*165-32delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1136-32delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1446-32delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.860-32delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1163-32delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.505-32delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.370-32delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.427-32delC
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: TC
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

11-67379562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379562
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379562
    reference: chr 11
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.427-29C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.373C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.860-29C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.370-29C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1136-29C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*165-29C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1163-29C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1446-29C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.505-29C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1142-29C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49803
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

11-67379567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379567
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379567
    reference: chr 11
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.370-24C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1142-24C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.860-24C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.427-24C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1163-24C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.505-24C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1446-24C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*165-24C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.378C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1136-24C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

11-67379570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379570
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379570
    reference: chr 11
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*165-21C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.860-21C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.505-21C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.370-21C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1446-21C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1136-21C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.427-21C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.381C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1142-21C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1163-21C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

11-67379572-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379572
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379571
    reference: chr 11
allele count: 7
allele frequency: 5.769959939992417e-5
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1446-17delT
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*165-17delT
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.370-17delT
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.860-17delT
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1136-17delT
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1142-17delT
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.505-17delT
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.427-17delT
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.385delT
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1163-17delT
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: CT
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

11-67379575-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379575
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379575
    reference: chr 11
allele count: 1700
allele frequency: 1.402108110783036e-2
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.505-16G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1136-16G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*165-16G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1446-16G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.370-16G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.386G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1142-16G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.860-16G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1163-16G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.427-16G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 6.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 8.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 9.75e1
  variant carriers: 564
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 5.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 4.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 7.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 6.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 5.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 8.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 7.75e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 125
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-67379578-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379578
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379577
    reference: chr 11
allele count: 366
allele frequency: 3.017113463250569e-3
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1136-12delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.370-12delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*165-12delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1163-12delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.860-12delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.505-12delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.390delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1446-12delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.427-12delC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1142-12delC
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 9.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 9.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 4
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: GC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

11-67379581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379581
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379581
    reference: chr 11
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.370-10G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1136-10G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*165-10G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.392G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.505-10G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.427-10G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.860-10G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1446-10G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1142-10G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1163-10G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

11-67379582-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379582
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379582
    reference: chr 11
allele count: 20
allele frequency: 1.714442463310931e-4
allele num: 116656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1142-9T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1163-9T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.393T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.505-9T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.370-9T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*165-9T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1446-9T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.427-9T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1136-9T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.860-9T>G
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-67379597-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379597
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379597
    reference: chr 11
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.866A>C
  hgvsp: ENSP00000432015.1:p.Asp289Ala
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1169A>C
  hgvsp: ENSP00000322450.6:p.Asp390Ala
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1148A>C
  hgvsp: ENSP00000395368.2:p.Asp383Ala
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.408A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1142A>C
  hgvsp: ENSP00000436766.1:p.Asp381Ala
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*171A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1452A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.376A>C
  hgvsp: ENSP00000432637.1:p.Thr126Pro
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.433A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.511A>C
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp390Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

11-67379603-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379603
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379603
    reference: chr 11
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.872T>C
  hgvsp: ENSP00000432015.1:p.Met291Thr
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.382T>C
  hgvsp: ENSP00000432637.1:p.Ter128ArgextTer3
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*177T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1458T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1154T>C
  hgvsp: ENSP00000395368.2:p.Met385Thr
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1148T>C
  hgvsp: ENSP00000436766.1:p.Met383Thr
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1175T>C
  hgvsp: ENSP00000322450.6:p.Met392Thr
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.414T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.517T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.439T>C
  variant of: http://identifiers.org/hgnc/7716
canonical: false
consequence: stop lost
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ter128ArgextTer3
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

11-67379607-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379607
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379607
    reference: chr 11
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*2C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1152C>G
  hgvsp: ENSP00000436766.1:p.Asn384Lys
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.521C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*181C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.443C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.876C>G
  hgvsp: ENSP00000432015.1:p.Asn292Lys
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1158C>G
  hgvsp: ENSP00000395368.2:p.Asn386Lys
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1462C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.418C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1179C>G
  hgvsp: ENSP00000322450.6:p.Asn393Lys
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn393Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/11-67379608-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379608
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379608
    reference: chr 11
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1463A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1159A>C
  hgvsp: ENSP00000395368.2:p.Lys387Gln
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.444A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.877A>C
  hgvsp: ENSP00000432015.1:p.Lys293Gln
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1180A>C
  hgvsp: ENSP00000322450.6:p.Lys394Gln
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.522A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1153A>C
  hgvsp: ENSP00000436766.1:p.Lys385Gln
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.419A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*3A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*182A>C
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys394Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

11-67379612-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379612
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379612
    reference: chr 11
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.448T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.526T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1467T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1157T>G
  hgvsp: ENSP00000436766.1:p.Val386Gly
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1163T>G
  hgvsp: ENSP00000395368.2:p.Val388Gly
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.881T>G
  hgvsp: ENSP00000432015.1:p.Val294Gly
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1184T>G
  hgvsp: ENSP00000322450.6:p.Val395Gly
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*7T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.423T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*186T>G
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val395Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

11-67379615-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379615
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379615
    reference: chr 11
allele count: 6
allele frequency: 4.944375772558714e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1166T>C
  hgvsp: ENSP00000395368.2:p.Met389Thr
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1160T>C
  hgvsp: ENSP00000436766.1:p.Met387Thr
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.451T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.884T>C
  hgvsp: ENSP00000432015.1:p.Met295Thr
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1470T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*10T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.426T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*189T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1187T>C
  hgvsp: ENSP00000322450.6:p.Met396Thr
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.529T>C
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met396Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-67379616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379616
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379616
    reference: chr 11
allele count: 7
allele frequency: 5.768628549766783e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1167G>A
  hgvsp: ENSP00000395368.2:p.Met389Ile
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1471G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.885G>A
  hgvsp: ENSP00000432015.1:p.Met295Ile
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.427G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*190G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1161G>A
  hgvsp: ENSP00000436766.1:p.Met387Ile
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.452G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.530G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1188G>A
  hgvsp: ENSP00000322450.6:p.Met396Ile
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met396Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

11-67379620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379620
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379620
    reference: chr 11
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1192C>T
  hgvsp: ENSP00000322450.6:p.Arg398Cys
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.534C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.456C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1165C>T
  hgvsp: ENSP00000436766.1:p.Arg389Cys
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.889C>T
  hgvsp: ENSP00000432015.1:p.Arg297Cys
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.431C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1475C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1171C>T
  hgvsp: ENSP00000395368.2:p.Arg391Cys
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*194C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg398Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

11-67379625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379625
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379625
    reference: chr 11
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1480C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1197C>T
  hgvsp: ENST00000322776.6:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1170C>T
  hgvsp: ENST00000529927.1:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.436C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.894C>T
  hgvsp: ENST00000532303.1:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1176C>T
  hgvsp: ENST00000415352.2:c.1176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.539C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.461C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*199C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe399Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

11-67379626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379626
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379626
    reference: chr 11
allele count: 5
allele frequency: 4.120856478810556e-5
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1171G>A
  hgvsp: ENSP00000436766.1:p.Val391Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1481G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1177G>A
  hgvsp: ENSP00000395368.2:p.Val393Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*200G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1198G>A
  hgvsp: ENSP00000322450.6:p.Val400Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.462G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.895G>A
  hgvsp: ENSP00000432015.1:p.Val299Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.437G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.540G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val400Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

11-67379629-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379629
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379630
    reference: chr 11
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*209dupG
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1490dupG
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.549dupG
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1186dupG
  hgvsp: ENSP00000395368.2:p.Asp396GlyfsTer27
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1180dupG
  hgvsp: ENSP00000436766.1:p.Asp394GlyfsTer27
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1207dupG
  hgvsp: ENSP00000322450.6:p.Asp403GlyfsTer27
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*30dupG
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.904dupG
  hgvsp: ENSP00000432015.1:p.Asp302GlyfsTer27
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.446dupG
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.471dupG
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp403GlyfsTer27
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

11-67379631-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379631
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379631
    reference: chr 11
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1182G>C
  hgvsp: ENSP00000395368.2:p.Arg394Ser
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.900G>C
  hgvsp: ENSP00000432015.1:p.Arg300Ser
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*205G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*26G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1486G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1203G>C
  hgvsp: ENSP00000322450.6:p.Arg401Ser
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.545G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.442G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1176G>C
  hgvsp: ENSP00000436766.1:p.Arg392Ser
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.467G>C
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg401Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

11-67379634-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379634
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379634
    reference: chr 11
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*29G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.548G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1206G>T
  hgvsp: ENST00000322776.6:c.1206G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1179G>T
  hgvsp: ENST00000529927.1:c.1179G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.903G>T
  hgvsp: ENST00000532303.1:c.903G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1185G>T
  hgvsp: ENST00000415352.2:c.1185G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.470G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*208G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.445G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1489G>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly402Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

11-67379641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379641
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379641
    reference: chr 11
allele count: 9
allele frequency: 7.416563658838072e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1186C>T
  hgvsp: ENSP00000436766.1:p.Arg396Trp
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*215C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1496C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.910C>T
  hgvsp: ENSP00000432015.1:p.Arg304Trp
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1213C>T
  hgvsp: ENSP00000322450.6:p.Arg405Trp
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1192C>T
  hgvsp: ENSP00000395368.2:p.Arg398Trp
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.555C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.452C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.477C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg405Trp
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

11-67379642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379642
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379642
    reference: chr 11
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1187G>A
  hgvsp: ENSP00000436766.1:p.Arg396Gln
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1214G>A
  hgvsp: ENSP00000322450.6:p.Arg405Gln
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.478G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.453G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.556G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1497G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*37G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.911G>A
  hgvsp: ENSP00000432015.1:p.Arg304Gln
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*216G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1193G>A
  hgvsp: ENSP00000395368.2:p.Arg398Gln
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg405Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum

11-67379642-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379642
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379642
    reference: chr 11
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.453G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.911G>T
  hgvsp: ENSP00000432015.1:p.Arg304Leu
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1214G>T
  hgvsp: ENSP00000322450.6:p.Arg405Leu
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1193G>T
  hgvsp: ENSP00000395368.2:p.Arg398Leu
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*37G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1497G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*216G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1187G>T
  hgvsp: ENSP00000436766.1:p.Arg396Leu
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.556G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.478G>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg405Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

11-67379645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379645
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379645
    reference: chr 11
allele count: 3
allele frequency: 2.472310126582278e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1190C>T
  hgvsp: ENSP00000436766.1:p.Pro397Leu
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.914C>T
  hgvsp: ENSP00000432015.1:p.Pro305Leu
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.559C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1217C>T
  hgvsp: ENSP00000322450.6:p.Pro406Leu
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1196C>T
  hgvsp: ENSP00000395368.2:p.Pro399Leu
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1500C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*219C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.456C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.481C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro406Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

11-67379646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379646
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379646
    reference: chr 11
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1191G>A
  hgvsp: ENST00000529927.1:c.1191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.915G>A
  hgvsp: ENST00000532303.1:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.482G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1218G>A
  hgvsp: ENST00000322776.6:c.1218G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1197G>A
  hgvsp: ENST00000415352.2:c.1197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.457G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*220G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1501G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.560G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro406Pro
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

11-67379646-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379646
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379646
    reference: chr 11
allele count: 4
allele frequency: 3.296304842271814e-5
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.560G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1197G>C
  hgvsp: ENST00000415352.2:c.1197G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.482G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.457G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1191G>C
  hgvsp: ENST00000529927.1:c.1191G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.915G>C
  hgvsp: ENST00000532303.1:c.915G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1218G>C
  hgvsp: ENST00000322776.6:c.1218G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*220G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1501G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*41G>C
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro406Pro
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

11-67379649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379649
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379649
    reference: chr 11
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1221C>T
  hgvsp: ENST00000322776.6:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1504C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*223C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.460C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.563C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.485C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1200C>T
  hgvsp: ENST00000415352.2:c.1200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.918C>T
  hgvsp: ENST00000532303.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1194C>T
  hgvsp: ENST00000529927.1:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala407Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-67379651-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379651
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379651
    reference: chr 11
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1196A>C
  hgvsp: ENSP00000436766.1:p.Glu399Ala
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1506A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1223A>C
  hgvsp: ENSP00000322450.6:p.Glu408Ala
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1202A>C
  hgvsp: ENSP00000395368.2:p.Glu401Ala
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.487A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*225A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.920A>C
  hgvsp: ENSP00000432015.1:p.Glu307Ala
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.565A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*46A>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.462A>C
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu408Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-67379655-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379655
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379655
    reference: chr 11
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*229C>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.924C>A
  hgvsp: ENST00000532303.1:c.924C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.466C>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.491C>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1227C>A
  hgvsp: ENST00000322776.6:c.1227C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1200C>A
  hgvsp: ENST00000529927.1:c.1200C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*50C>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1206C>A
  hgvsp: ENST00000415352.2:c.1206C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.569C>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1510C>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile409Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

11-67379655-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379655
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379655
    reference: chr 11
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1206C>G
  hgvsp: ENSP00000395368.2:p.Ile402Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.466C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1227C>G
  hgvsp: ENSP00000322450.6:p.Ile409Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*229C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1510C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*50C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1200C>G
  hgvsp: ENSP00000436766.1:p.Ile400Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.924C>G
  hgvsp: ENSP00000432015.1:p.Ile308Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.569C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.491C>G
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile409Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

11-67379658-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379658
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379658
    reference: chr 11
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.572C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1203C>T
  hgvsp: ENST00000529927.1:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*53C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.494C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*232C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.469C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.927C>T
  hgvsp: ENST00000532303.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1513C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1209C>T
  hgvsp: ENST00000415352.2:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1230C>T
  hgvsp: ENST00000322776.6:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp410Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

11-67379663-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379663
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379663
    reference: chr 11
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.474T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1214T>C
  hgvsp: ENSP00000395368.2:p.Leu405Pro
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1208T>C
  hgvsp: ENSP00000436766.1:p.Leu403Pro
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.932T>C
  hgvsp: ENSP00000432015.1:p.Leu311Pro
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1235T>C
  hgvsp: ENSP00000322450.6:p.Leu412Pro
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*237T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.499T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1518T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*58T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.577T>C
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu412Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

11-67379677-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379677
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379675
    reference: chr 11
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.489_490delAG
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.592_593delAG
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1250_1251delAG
  hgvsp: ENSP00000322450.6:p.Lys417ThrfsTer12
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1229_1230delAG
  hgvsp: ENSP00000395368.2:p.Lys410ThrfsTer12
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*252_*253delAG
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.514_515delAG
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1533_1534delAG
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.947_948delAG
  hgvsp: ENSP00000432015.1:p.Lys316ThrfsTer12
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1223_1224delAG
  hgvsp: ENSP00000436766.1:p.Lys408ThrfsTer12
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*73_*74delAG
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys417ThrfsTer12
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AAG
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

11-67379679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379679
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379679
    reference: chr 11
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000527923
  gene symbol: NDUFV1
  hgvsc: ENST00000527923.1:n.593G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1251G>A
  hgvsp: ENST00000322776.6:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*253G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*74G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.490G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1534G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.948G>A
  hgvsp: ENST00000532303.1:c.948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1230G>A
  hgvsp: ENST00000415352.2:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1224G>A
  hgvsp: ENST00000529927.1:c.1224G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.515G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys417Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

11-67379680-CAGATAGAAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379680
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379670
    reference: chr 11
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsp: ENSP00000395368.2:p.Gln411ProfsTer18
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsp: ENSP00000322450.6:p.Gln418ProfsTer18
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsp: ENSP00000432015.1:p.Gln317ProfsTer18
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsp: ENSP00000436766.1:p.Gln409ProfsTer18
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln418ProfsTer18
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: CAGATAGAAGG
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

11-67379684-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379684
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379684
    reference: chr 11
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.520T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*79T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*258T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1229T>G
  hgvsp: ENSP00000436766.1:p.Ile410Arg
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.953T>G
  hgvsp: ENSP00000432015.1:p.Ile318Arg
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1235T>G
  hgvsp: ENSP00000395368.2:p.Ile412Arg
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1256T>G
  hgvsp: ENSP00000322450.6:p.Ile419Arg
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.495T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1539T>G
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile419Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

11-67379690-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379690
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379690
    reference: chr 11
allele count: 7
allele frequency: 5.769674590353104e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1235G>T
  hgvsp: ENSP00000436766.1:p.Gly412Val
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.959G>T
  hgvsp: ENSP00000432015.1:p.Gly320Val
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.526G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1262G>T
  hgvsp: ENSP00000322450.6:p.Gly421Val
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1545G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1241G>T
  hgvsp: ENSP00000395368.2:p.Gly414Val
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.501G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*85G>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*264G>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49883
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly421Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

11-67379691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379691
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379691
    reference: chr 11
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*265C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1236C>T
  hgvsp: ENST00000529927.1:c.1236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1546C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.502C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1242C>T
  hgvsp: ENST00000415352.2:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1263C>T
  hgvsp: ENST00000322776.6:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*86C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.527C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.960C>T
  hgvsp: ENST00000532303.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly421Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-67379693-ATAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379693
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379690
    reference: chr 11
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*268_*270delTAC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1239_1241delTAC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*89_*91delTAC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1266_1268delTAC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.963_965delTAC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1245_1247delTAC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.505_507delTAC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1549_1551delTAC
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.530_532delTAC
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His422_Thr423delinsGln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: ATAC
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

11-67379697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379697
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379697
    reference: chr 11
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.966G>A
  hgvsp: ENST00000532303.1:c.966G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1552G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1248G>A
  hgvsp: ENST00000415352.2:c.1248G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.533G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1242G>A
  hgvsp: ENST00000529927.1:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*271G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*92G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1269G>A
  hgvsp: ENST00000322776.6:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.508G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr423Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-67379706-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379706
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379706
    reference: chr 11
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*101T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1278T>C
  hgvsp: ENST00000322776.6:c.1278T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.517T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.542T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*280T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1257T>C
  hgvsp: ENST00000415352.2:c.1257T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.975T>C
  hgvsp: ENST00000532303.1:c.975T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1561T>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1251T>C
  hgvsp: ENST00000529927.1:c.1251T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala426Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

11-67379709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379709
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379709
    reference: chr 11
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1564G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*104G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.545G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1254G>A
  hgvsp: ENST00000529927.1:c.1254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*283G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1260G>A
  hgvsp: ENST00000415352.2:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.978G>A
  hgvsp: ENST00000532303.1:c.978G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.520G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1281G>A
  hgvsp: ENST00000322776.6:c.1281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu427Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

11-67379715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379715
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379715
    reference: chr 11
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*289C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1570C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.551C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*110C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1260C>T
  hgvsp: ENST00000529927.1:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1287C>T
  hgvsp: ENST00000322776.6:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.984C>T
  hgvsp: ENST00000532303.1:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1266C>T
  hgvsp: ENST00000415352.2:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.526C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp429Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

11-67379716-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379716
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379716
    reference: chr 11
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*290G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.985G>C
  hgvsp: ENSP00000432015.1:p.Gly329Arg
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.552G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1261G>C
  hgvsp: ENSP00000436766.1:p.Gly421Arg
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1288G>C
  hgvsp: ENSP00000322450.6:p.Gly430Arg
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1267G>C
  hgvsp: ENSP00000395368.2:p.Gly423Arg
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.527G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1571G>C
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*111G>C
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly430Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

11-67379720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379720
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379720
    reference: chr 11
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.556C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1271C>T
  hgvsp: ENSP00000395368.2:p.Ala424Val
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1265C>T
  hgvsp: ENSP00000436766.1:p.Ala422Val
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*115C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1575C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*294C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.989C>T
  hgvsp: ENSP00000432015.1:p.Ala330Val
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1292C>T
  hgvsp: ENSP00000322450.6:p.Ala431Val
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.531C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala431Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

11-67379721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379721
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379721
    reference: chr 11
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1266C>T
  hgvsp: ENST00000529927.1:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1293C>T
  hgvsp: ENST00000322776.6:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*295C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*116C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.532C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.557C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1272C>T
  hgvsp: ENST00000415352.2:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1576C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.990C>T
  hgvsp: ENST00000532303.1:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala431Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

11-67379725-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379725
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379725
    reference: chr 11
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.561T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.994T>G
  hgvsp: ENSP00000432015.1:p.Trp332Gly
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.536T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1276T>G
  hgvsp: ENSP00000395368.2:p.Trp426Gly
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*299T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1297T>G
  hgvsp: ENSP00000322450.6:p.Trp433Gly
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*120T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1270T>G
  hgvsp: ENSP00000436766.1:p.Trp424Gly
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1580T>G
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp433Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

11-67379731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379731
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379731
    reference: chr 11
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1000G>A
  hgvsp: ENSP00000432015.1:p.Val334Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.542G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1276G>A
  hgvsp: ENSP00000436766.1:p.Val426Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*305G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1586G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1282G>A
  hgvsp: ENSP00000395368.2:p.Val428Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1303G>A
  hgvsp: ENSP00000322450.6:p.Val435Met
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.567G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val435Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

11-67379743-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379743
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379743
    reference: chr 11
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+7A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+7A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+7A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+7A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+7A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+7A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+7A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+7A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+7A>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1308+7A>T
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

11-67379749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379749
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379749
    reference: chr 11
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+13C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+13C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+13C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+13C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+13C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+13C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+13C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+13C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+13C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

11-67379752-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379752
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379752
    reference: chr 11
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+16C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+16C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+16C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+16C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+16C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+16C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+16C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+16C>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+16C>G
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

11-67379755-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379755
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379755
    reference: chr 11
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+19C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+19C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+19C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+19C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+19C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+19C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+19C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+19C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+19C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

11-67379756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379756
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379756
    reference: chr 11
allele count: 7
allele frequency: 5.772053366756271e-5
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+20G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+20G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+20G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+20G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+20G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+20G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+20G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+20G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+20G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-67379758-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379758
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379758
    reference: chr 11
allele count: 7
allele frequency: 5.772624564991506e-5
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+22A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+22A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+22A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+22A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+22A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+22A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+22A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+22A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+22A>G
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49900
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

11-67379762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379762
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379762
    reference: chr 11
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+26C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+26C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+26C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+26C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+26C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+26C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+26C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+26C>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+26C>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49901
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-67379763-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379763
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379763
    reference: chr 11
allele count: 466
allele frequency: 3.841778100215997e-3
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+27G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+27G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+27G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+27G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+27G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+27G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+27G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+27G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+27G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 7.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 8.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 8.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 9.75e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 9.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 12
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

11-67379765-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379765
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379765
    reference: chr 11
allele count: 5
allele frequency: 4.122555324692458e-5
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+29A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+29A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+29A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+29A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+29A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+29A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+29A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+29A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+29A>G
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

11-67379772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379772
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379772
    reference: chr 11
allele count: 95
allele frequency: 7.829627309740056e-4
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+36G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+36G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+36G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+36G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+36G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+36G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+36G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+36G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+36G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

11-67379781-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379781
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379781
    reference: chr 11
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+45A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+45A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+45A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+45A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+45A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+45A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+45A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+45A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+45A>G
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

11-67379783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379783
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379783
    reference: chr 11
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+47G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

11-67379788-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379788
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379788
    reference: chr 11
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.572+52A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.547+52A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1591+52A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1281+52A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1005+52A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*131+52A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1287+52A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1308+52A>T
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*310+52A>T
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

11-67379796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379796
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379796
    reference: chr 11
allele count: 44
allele frequency: 3.633240850838948e-4
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1288-47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1309-47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.548-47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*132-47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1592-47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*311-47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.573-47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1282-47G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1006-47G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

11-67379800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379800
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379800
    reference: chr 11
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.548-43G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*132-43G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.573-43G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1006-43G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1592-43G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1288-43G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1282-43G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*311-43G>A
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1309-43G>A
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

11-67379801-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379801
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379801
    reference: chr 11
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.573-42A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1006-42A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1282-42A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.548-42A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1288-42A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1592-42A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*132-42A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*311-42A>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1309-42A>G
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8393
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

11-67379806-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67379806
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 67379806
    reference: chr 11
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432637
  ensembl transcript: ENST00000527355
  gene symbol: NDUFV1
  hgvsc: ENST00000527355.1:c.*132-37T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000531250
  gene symbol: NDUFV1
  hgvsc: ENST00000531250.1:n.573-37T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000435199
  ensembl transcript: ENST00000533919
  gene symbol: NDUFV1
  hgvsc: ENST00000533919.1:c.*311-37T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000534352
  gene symbol: NDUFV1
  hgvsc: ENST00000534352.1:n.548-37T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl transcript: ENST00000526770
  gene symbol: NDUFV1
  hgvsc: ENST00000526770.1:n.1592-37T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000395368
  ensembl transcript: ENST00000415352
  gene symbol: NDUFV1
  hgvsc: ENST00000415352.2:c.1288-37T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000432015
  ensembl transcript: ENST00000532303
  gene symbol: NDUFV1
  hgvsc: ENST00000532303.1:c.1006-37T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000436766
  ensembl transcript: ENST00000529927
  gene symbol: NDUFV1
  hgvsc: ENST00000529927.1:c.1282-37T>G
  variant of: http://identifiers.org/hgnc/7716
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167792
  ensembl protein: ENSP00000322450
  ensembl transcript: ENST00000322776
  gene symbol: NDUFV1
  hgvsc: ENST00000322776.6:c.1309-37T>G
  variant of: http://identifiers.org/hgnc/7716
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39593
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49808
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

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

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

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.883082e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: -1.224e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.071e0

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.543e0

QD
type: SiteQuality
SIO_000300: 1.267e1

GenotypeQuality
all individuals: 1588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49806
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 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: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.309e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.726e0

DP
type: SiteQuality
SIO_000300: 3.883617e6

MQRankSum
type: SiteQuality
SIO_000300: -1.116e0

QD
type: SiteQuality
SIO_000300: 6.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.981e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 6.95e-1

GenotypeQuality
all individuals: 997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1529
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2502
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49806
bin: 9.75e1
variant carriers: 2

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99868058054456e-5
allele num: 66696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 3.099e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

DP
type: SiteQuality
SIO_000300: 3.883676e6

QD
type: SiteQuality
SIO_000300: 1.618e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.883751e6

QD
type: SiteQuality
SIO_000300: 1.051e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 1.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.901e0

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

GenotypeQuality
all individuals: 2540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49804
bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99868058054456e-5
allele num: 66696
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.341e1

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 3.884152e6

GenotypeQuality
all individuals: 1400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49802
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.217e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.249e0

DP
type: SiteQuality
SIO_000300: 3.884263e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 156
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49801
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 62
bin: 2.75e1
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: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.049083995852057e-4
allele num: 11572
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

FS
type: SiteQuality
SIO_000300: 2.782e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.884568e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

QD
type: SiteQuality
SIO_000300: 2.567e1

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 1420
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 1564

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 192
bin: 4.25e1
variant carriers: 1

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 56
allele frequency: 4.844290657439446e-3
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.599604043555209e-4
allele num: 66674
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: 1614
allele frequency: 1.561834720340623e-1
allele num: 10334
num of homozygotes: 125

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

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.254e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.718e0

DP
type: SiteQuality
SIO_000300: 3.929839e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 49042
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variant carriers: 361

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1234
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variant carriers: 1

GenotypeQuality
all individuals: 929
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.497825630567136e-5
allele num: 66686
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.469571230982019e-3
allele num: 11568
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 343
allele frequency: 3.308256172839506e-2
allele num: 10368
num of homozygotes: 4

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.036e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.645e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

DP
type: SiteQuality
SIO_000300: 3.904999e6

GenotypeQuality
all individuals: 139
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 143
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 899
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GenotypeQuality
all individuals: 49196
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variant carriers: 1

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: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.109e0

MQ
type: SiteQuality
SIO_000300: 5.809e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 7.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.486e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

QD
type: SiteQuality
SIO_000300: 1.603e1

DP
type: SiteQuality
SIO_000300: 3.888854e6

MQRankSum
type: SiteQuality
SIO_000300: 2.82e0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
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variant carriers: 2

GenotypeQuality
all individuals: 124
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GenotypeQuality
all individuals: 799
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GenotypeQuality
all individuals: 122
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variant carriers: 1

GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 210
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variant carriers: 0

GenotypeQuality
all individuals: 241
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variant carriers: 0

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 2277
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variant carriers: 2

GenotypeQuality
all individuals: 2006
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variant carriers: 0

GenotypeQuality
all individuals: 1048
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variant carriers: 0

GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 48506
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variant carriers: 8

GenotypeQuality
all individuals: 153
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variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1202
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.084206722081677e-3
allele num: 5534
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.372071227741331e-5
allele num: 64020
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.148800983808157e-4
allele num: 9758
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: 1
allele frequency: 1.193317422434368e-3
allele num: 838
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.444e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.367e0

MQ
type: SiteQuality
SIO_000300: 5.599e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 1.60994e2

QD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 3.83412e6

VQSLOD
type: SiteQuality
SIO_000300: -1.243e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1003
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variant carriers: 0

GenotypeQuality
all individuals: 1593
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 63
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 1295
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1374
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.334e0

FS
type: SiteQuality
SIO_000300: 5.692e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 3.789939e6

VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.018e1

GenotypeQuality
all individuals: 1305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1374
bin: 9.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 3.790688e6

FS
type: SiteQuality
SIO_000300: 6.11e-1

QD
type: SiteQuality
SIO_000300: 2.66e1

VQSLOD
type: SiteQuality
SIO_000300: -3.167e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 927
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GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.961e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.791269e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
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GenotypeQuality
all individuals: 1019
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variant carriers: 0

European (Finnish)
type: Population
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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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Other
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

South Asian
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ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66686
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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African
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Latino
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Other
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FS
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66700
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Latino
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East Asian
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African
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South Asian
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DP
type: SiteQuality
SIO_000300: 3.791793e6

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

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

African
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Other
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South Asian
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European (Finnish)
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MQ
type: SiteQuality
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VQSLOD
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FS
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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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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Other
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FS
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VQSLOD
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DP
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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Other
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South Asian
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East Asian
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African
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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DP
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

DP
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ReadPosRankSum
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SIO_000300: 2.4e-2

FS
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SIO_000300: 7.639e0

QD
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BaseQRankSum
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SIO_000300: -1.493e0

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -7.316e-1

MQRankSum
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SIO_000300: -4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 1.03e0

ClippingRankSum
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SIO_000300: -5.28e-1

FS
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SIO_000300: 5.679999999999999e-1

VQSLOD
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MQRankSum
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BaseQRankSum
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SIO_000300: -3.234e0

DP
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MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
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SIO_000300: 1.025e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 908
num of homozygotes: 0

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

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

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

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

African
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allele count: 8
allele frequency: 7.696748123917645e-4
allele num: 10394
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

MQRankSum
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SIO_000300: 8.149999999999999e-1

MQ
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SIO_000300: 5.948e1

ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.104e0

VQSLOD
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DP
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QD
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SIO_000300: 1.288e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 908
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
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QD
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 3.791329e6

BaseQRankSum
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SIO_000300: 2.55e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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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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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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African
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.497885993583016e-5
allele num: 66698
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DP
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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FS
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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South Asian
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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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South Asian
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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MQ
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MQRankSum
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QD
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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East Asian
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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Other
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European (Finnish)
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South Asian
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QD
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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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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Latino
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East Asian
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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MQ
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Finnish)
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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DP
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VQSLOD
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ClippingRankSum
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FS
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Latino
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European (Finnish)
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East Asian
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African
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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SIO_000300: 1.5e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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SIO_000300: 3.623e0

DP
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

MQRankSum
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SIO_000300: -6.044e0

ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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DP
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SIO_000300: 3.790804e6

ClippingRankSum
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SIO_000300: -1.86e-1

FS
type: SiteQuality
SIO_000300: 2.6777e1

QD
type: SiteQuality
SIO_000300: 9.7e-1

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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DP
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QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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FS
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SIO_000300: 1.81e0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.959e1

ReadPosRankSum
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SIO_000300: 1.92e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

Latino
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allele count: 7
allele frequency: 6.050129645635263e-4
allele num: 11570
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
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SIO_000300: 3.91e-1

DP
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SIO_000300: 3.791476e6

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

European (Non-Finnish)
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allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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

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

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

FS
type: SiteQuality
SIO_000300: 4.861e0

QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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African
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European (Non-Finnish)
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Latino
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East Asian
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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Latino
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East Asian
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MQ
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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South Asian
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East Asian
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Other
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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East Asian
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South Asian
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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European (Finnish)
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Other
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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QD
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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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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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Latino
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East Asian
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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Other
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South Asian
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European (Non-Finnish)
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African
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MQRankSum
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FS
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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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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European (Non-Finnish)
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South Asian
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Other
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African
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European (Finnish)
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Latino
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BaseQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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MQ
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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MQ
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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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Latino
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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MQ
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DP
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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FS
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East Asian
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South Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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DP
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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SIO_000300: 2.02e-1

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

MQ
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SIO_000300: 5.787e1

BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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SIO_000300: -1.111e0

QD
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InbreedingCoeff
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SIO_000300: 7.5e-3

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.50030001200048e-5
allele num: 66664
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.31e1

BaseQRankSum
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MQ
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SIO_000300: 5.936e1

VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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SIO_000300: -4.27e-1

FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

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

East Asian
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allele count: 7
allele frequency: 8.092485549132948e-4
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.274e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.856e1

DP
type: SiteQuality
SIO_000300: 3.787893e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.884e1

DP
type: SiteQuality
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MQRankSum
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FS
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QD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 908
num of homozygotes: 0

South Asian
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allele frequency: 1.393095093882496e-3
allele num: 16510
num of homozygotes: 0

African
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allele frequency: 1.926782273603083e-4
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.000360014400577e-5
allele num: 66664
num of homozygotes: 0

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

East Asian
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allele count: 431
allele frequency: 4.984964145269489e-2
allele num: 8646
num of homozygotes: 12

Latino
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allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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num of homozygotes: 0

African
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South Asian
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Latino
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European (Finnish)
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East Asian
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allele frequency: 5.780346820809249e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 1.199652100890742e-3
allele num: 66686
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DP
type: SiteQuality
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
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East Asian
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Other
type: Population
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Latino
type: Population
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South Asian
type: Population
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allele num: 16512
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.99e-1

QD
type: SiteQuality
SIO_000300: 1.586e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.4206e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.932e0

DP
type: SiteQuality
SIO_000300: 3.795256e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.232e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.247e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

FS
type: SiteQuality
SIO_000300: 9.044e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

DP
type: SiteQuality
SIO_000300: 3.795294e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.868e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 8.640000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.128e0

VQSLOD
type: SiteQuality
SIO_000300: -1.785e0

DP
type: SiteQuality
SIO_000300: 3.795578e6

QD
type: SiteQuality
SIO_000300: 1.487e1

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: 44

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.462278328824767e-4
allele num: 66540
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 1.914e0

DP
type: SiteQuality
SIO_000300: 2.050717e6

QD
type: SiteQuality
SIO_000300: 1.439e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.453e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
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MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

DP
type: SiteQuality
SIO_000300: 2.046877e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.079e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.378e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

FS
type: SiteQuality
SIO_000300: 4.281e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
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allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66500
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.154e0

BaseQRankSum
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SIO_000300: 2.63e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.581e0

ReadPosRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.901e1

VQSLOD
type: SiteQuality
SIO_000300: -3.291e-1

DP
type: SiteQuality
SIO_000300: 2.046551e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
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ClippingRankSum
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MQ
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MQRankSum
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