10-102276740-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102276740
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102276740
    reference: chr 10
allele count: 176
allele frequency: 1.4765596160945e-3
allele num: 119196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.313-23T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473769
  ensembl transcript: ENST00000480905
  gene symbol: SEC31B
  hgvsc: ENST00000480905.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000474124
  ensembl transcript: ENST00000462434
  gene symbol: SEC31B
  hgvsc: ENST00000462434.1:c.-8-23T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359354
  ensembl transcript: ENST00000370329
  gene symbol: SEC31B
  hgvsc: ENST00000370329.5:c.-31T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000435359
  ensembl transcript: ENST00000469546
  gene symbol: SEC31B
  hgvsc: ENST00000469546.2:c.-31T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*113-23T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473995
  ensembl transcript: ENST00000479697
  gene symbol: SEC31B
  hgvsc: ENST00000479697.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-283-23T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.469-23T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359370
  ensembl transcript: ENST00000370345
  gene symbol: SEC31B
  hgvsc: ENST00000370345.3:c.-31T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000432260
  ensembl transcript: ENST00000482456
  gene symbol: SEC31B
  hgvsc: ENST00000482456.2:c.-31T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*113-23T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*111-23T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000391178
  ensembl transcript: ENST00000451524
  gene symbol: SEC31B
  hgvsc: ENST00000451524.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*267-23T>C
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 6
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS

10-102276742-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102276742
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102276742
    reference: chr 10
allele count: 1
allele frequency: 8.397433744247758e-6
allele num: 119084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.469-25C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000435359
  ensembl transcript: ENST00000469546
  gene symbol: SEC31B
  hgvsc: ENST00000469546.2:c.-33C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*113-25C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473769
  ensembl transcript: ENST00000480905
  gene symbol: SEC31B
  hgvsc: ENST00000480905.1:c.-33C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-283-25C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000391178
  ensembl transcript: ENST00000451524
  gene symbol: SEC31B
  hgvsc: ENST00000451524.1:c.-33C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*267-25C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000432260
  ensembl transcript: ENST00000482456
  gene symbol: SEC31B
  hgvsc: ENST00000482456.2:c.-33C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359370
  ensembl transcript: ENST00000370345
  gene symbol: SEC31B
  hgvsc: ENST00000370345.3:c.-33C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.313-25C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000474124
  ensembl transcript: ENST00000462434
  gene symbol: SEC31B
  hgvsc: ENST00000462434.1:c.-8-25C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473995
  ensembl transcript: ENST00000479697
  gene symbol: SEC31B
  hgvsc: ENST00000479697.1:c.-33C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359354
  ensembl transcript: ENST00000370329
  gene symbol: SEC31B
  hgvsc: ENST00000370329.5:c.-33C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*113-25C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*111-25C>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

10-102276745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102276745
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102276745
    reference: chr 10
allele count: 1
allele frequency: 8.414958430105355e-6
allele num: 118836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473769
  ensembl transcript: ENST00000480905
  gene symbol: SEC31B
  hgvsc: ENST00000480905.1:c.-36G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*111-28G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359370
  ensembl transcript: ENST00000370345
  gene symbol: SEC31B
  hgvsc: ENST00000370345.3:c.-36G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000432260
  ensembl transcript: ENST00000482456
  gene symbol: SEC31B
  hgvsc: ENST00000482456.2:c.-36G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*113-28G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.313-28G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-283-28G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000435359
  ensembl transcript: ENST00000469546
  gene symbol: SEC31B
  hgvsc: ENST00000469546.2:c.-36G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473995
  ensembl transcript: ENST00000479697
  gene symbol: SEC31B
  hgvsc: ENST00000479697.1:c.-36G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000391178
  ensembl transcript: ENST00000451524
  gene symbol: SEC31B
  hgvsc: ENST00000451524.1:c.-36G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*113-28G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.469-28G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*267-28G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359354
  ensembl transcript: ENST00000370329
  gene symbol: SEC31B
  hgvsc: ENST00000370329.5:c.-36G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000474124
  ensembl transcript: ENST00000462434
  gene symbol: SEC31B
  hgvsc: ENST00000462434.1:c.-8-28G>A
  variant of: http://identifiers.org/hgnc/23197
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/10-102276749-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102276749
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102276749
    reference: chr 10
allele count: 1
allele frequency: 8.436397995511836e-6
allele num: 118534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473995
  ensembl transcript: ENST00000479697
  gene symbol: SEC31B
  hgvsc: ENST00000479697.1:c.-40T>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000391178
  ensembl transcript: ENST00000451524
  gene symbol: SEC31B
  hgvsc: ENST00000451524.1:c.-40T>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359354
  ensembl transcript: ENST00000370329
  gene symbol: SEC31B
  hgvsc: ENST00000370329.5:c.-40T>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000432260
  ensembl transcript: ENST00000482456
  gene symbol: SEC31B
  hgvsc: ENST00000482456.2:c.-40T>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000435359
  ensembl transcript: ENST00000469546
  gene symbol: SEC31B
  hgvsc: ENST00000469546.2:c.-40T>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-283-32T>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000474124
  ensembl transcript: ENST00000462434
  gene symbol: SEC31B
  hgvsc: ENST00000462434.1:c.-8-32T>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359370
  ensembl transcript: ENST00000370345
  gene symbol: SEC31B
  hgvsc: ENST00000370345.3:c.-40T>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.469-32T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*113-32T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473769
  ensembl transcript: ENST00000480905
  gene symbol: SEC31B
  hgvsc: ENST00000480905.1:c.-40T>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*267-32T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*113-32T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.313-32T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*111-32T>G
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

10-102276757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102276757
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102276757
    reference: chr 10
allele count: 1
allele frequency: 8.517742457539054e-6
allele num: 117402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*267-40C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*113-40C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000432260
  ensembl transcript: ENST00000482456
  gene symbol: SEC31B
  hgvsc: ENST00000482456.2:c.-48C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.313-40C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*111-40C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.469-40C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000391178
  ensembl transcript: ENST00000451524
  gene symbol: SEC31B
  hgvsc: ENST00000451524.1:c.-45-3C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359354
  ensembl transcript: ENST00000370329
  gene symbol: SEC31B
  hgvsc: ENST00000370329.5:c.-45-3C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359370
  ensembl transcript: ENST00000370345
  gene symbol: SEC31B
  hgvsc: ENST00000370345.3:c.-45-3C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-283-40C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473995
  ensembl transcript: ENST00000479697
  gene symbol: SEC31B
  hgvsc: ENST00000479697.1:c.-45-3C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473769
  ensembl transcript: ENST00000480905
  gene symbol: SEC31B
  hgvsc: ENST00000480905.1:c.-45-3C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000474124
  ensembl transcript: ENST00000462434
  gene symbol: SEC31B
  hgvsc: ENST00000462434.1:c.-8-40C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*113-40C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-45-3C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

10-102276757-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102276757
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102276757
    reference: chr 10
allele count: 1
allele frequency: 8.517742457539054e-6
allele num: 117402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000474124
  ensembl transcript: ENST00000462434
  gene symbol: SEC31B
  hgvsc: ENST00000462434.1:c.-8-40C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.469-40C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*113-40C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000391178
  ensembl transcript: ENST00000451524
  gene symbol: SEC31B
  hgvsc: ENST00000451524.1:c.-45-3C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473769
  ensembl transcript: ENST00000480905
  gene symbol: SEC31B
  hgvsc: ENST00000480905.1:c.-45-3C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*267-40C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473995
  ensembl transcript: ENST00000479697
  gene symbol: SEC31B
  hgvsc: ENST00000479697.1:c.-45-3C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000432260
  ensembl transcript: ENST00000482456
  gene symbol: SEC31B
  hgvsc: ENST00000482456.2:c.-48C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*113-40C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.313-40C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*111-40C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359354
  ensembl transcript: ENST00000370329
  gene symbol: SEC31B
  hgvsc: ENST00000370329.5:c.-45-3C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359370
  ensembl transcript: ENST00000370345
  gene symbol: SEC31B
  hgvsc: ENST00000370345.3:c.-45-3C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-283-40C>A
  variant of: http://identifiers.org/hgnc/23197
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-45-3C>A
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

10-102276765-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102276765
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102276765
    reference: chr 10
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.313-48T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000432260
  ensembl transcript: ENST00000482456
  gene symbol: SEC31B
  hgvsc: ENST00000482456.2:c.-56T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*267-48T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*111-48T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000474124
  ensembl transcript: ENST00000462434
  gene symbol: SEC31B
  hgvsc: ENST00000462434.1:c.-8-48T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.469-48T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*113-48T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*113-48T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473995
  ensembl transcript: ENST00000479697
  gene symbol: SEC31B
  hgvsc: ENST00000479697.1:c.-45-11T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359354
  ensembl transcript: ENST00000370329
  gene symbol: SEC31B
  hgvsc: ENST00000370329.5:c.-45-11T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473769
  ensembl transcript: ENST00000480905
  gene symbol: SEC31B
  hgvsc: ENST00000480905.1:c.-45-11T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-283-48T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359370
  ensembl transcript: ENST00000370345
  gene symbol: SEC31B
  hgvsc: ENST00000370345.3:c.-45-11T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000391178
  ensembl transcript: ENST00000451524
  gene symbol: SEC31B
  hgvsc: ENST00000451524.1:c.-45-11T>C
  variant of: http://identifiers.org/hgnc/23197
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10482
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

10-102276765-AAACCAGCAAACTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102276765
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102276752
    reference: chr 10
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359354
  ensembl transcript: ENST00000370329
  gene symbol: SEC31B
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473769
  ensembl transcript: ENST00000480905
  gene symbol: SEC31B
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000432260
  ensembl transcript: ENST00000482456
  gene symbol: SEC31B
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000359370
  ensembl transcript: ENST00000370345
  gene symbol: SEC31B
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000474124
  ensembl transcript: ENST00000462434
  gene symbol: SEC31B
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000391178
  ensembl transcript: ENST00000451524
  gene symbol: SEC31B
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000473995
  ensembl transcript: ENST00000479697
  gene symbol: SEC31B
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: AAACCAGCAAACTT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

10-102283547-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283547
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283546
    reference: chr 10
allele count: 1
allele frequency: 8.589441858068062e-6
allele num: 116422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2608delT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+186delT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.339delT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2608delT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.*46delT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3184delT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.*46delT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3184delT
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+186delT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3184delT
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18664
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: GA
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

10-102283581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283581
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283581
    reference: chr 10
allele count: 1
allele frequency: 8.310893919750009e-6
allele num: 120324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.306G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3151G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3151G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.*13G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+153G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2575G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2575G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3151G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+153G>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

10-102283584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283584
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283584
    reference: chr 10
allele count: 7
allele frequency: 5.806911884259951e-5
allele num: 120546
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+150G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.303G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.*10G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3148G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3148G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.*10G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2572G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2572G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3148G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+150G>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31436
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

10-102283585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283585
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283585
    reference: chr 10
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.*9C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3147C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2571C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2571C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3147C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+149C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+149C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.302C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3147C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6820
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

10-102283592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283592
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283592
    reference: chr 10
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3140G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2564G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+142G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.*2G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.295G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.*2G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+142G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3140G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3140G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2564G>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

10-102283604-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283604
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283604
    reference: chr 10
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3128A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.551A>G
  hgvsp: ENSP00000299166.4:p.Tyr184Cys
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3128A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2552A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+130A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+130A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.283A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3128A>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.458A>G
  hgvsp: ENSP00000359346.1:p.Tyr153Cys
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2552A>G
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr184Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

10-102283604-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283604
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283604
    reference: chr 10
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.283A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3128A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3128A>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+130A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.458A>C
  hgvsp: ENSP00000359346.1:p.Tyr153Ser
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+130A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2552A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2552A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.551A>C
  hgvsp: ENSP00000299166.4:p.Tyr184Ser
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3128A>C
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr184Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

10-102283616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283616
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283616
    reference: chr 10
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.446G>A
  hgvsp: ENSP00000359346.1:p.Arg149Gln
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+118G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2540G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2540G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+118G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.271G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3116G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.539G>A
  hgvsp: ENSP00000299166.4:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3116G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3116G>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg180Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

10-102283617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283617
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283617
    reference: chr 10
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.270C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.538C>T
  hgvsp: ENSP00000299166.4:p.Arg180Trp
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3115C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2539C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2539C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.445C>T
  hgvsp: ENSP00000359346.1:p.Arg149Trp
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+117C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3115C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+117C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3115C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg180Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

10-102283635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283635
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283635
    reference: chr 10
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.427C>T
  hgvsp: ENSP00000359346.1:p.Pro143Ser
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3097C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.520C>T
  hgvsp: ENSP00000299166.4:p.Pro174Ser
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+99C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2521C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3097C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2521C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.252C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+99C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3097C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro174Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

10-102283639-ACCGCCTCGTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283639
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283629
    reference: chr 10
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsp: ENSP00000359346.1:p.Glu138ValfsTer27
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsp: ENSP00000299166.4:p.Glu169ValfsTer27
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 17525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu169ValfsTer27
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: ACCGCCTCGTT
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

10-102283642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283642
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283642
    reference: chr 10
allele count: 184
allele frequency: 1.516575177620625e-3
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+92C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2514C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3090C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.513C>T
  hgvsp: ENST00000299166.4:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3090C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.245C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.420C>T
  hgvsp: ENST00000370322.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3090C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2514C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+92C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17515
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 31388
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly171Gly
num of homozygotes: 3
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

10-102283646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283646
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283646
    reference: chr 10
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2510G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+88G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.509G>A
  hgvsp: ENSP00000299166.4:p.Arg170Gln
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+88G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.416G>A
  hgvsp: ENSP00000359346.1:p.Arg139Gln
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3086G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2510G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3086G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.241G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3086G>A
  variant of: http://identifiers.org/hgnc/23197
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg170Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

10-102283647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283647
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283647
    reference: chr 10
allele count: 7
allele frequency: 5.769769703763538e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+87C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.415C>T
  hgvsp: ENSP00000359346.1:p.Arg139Ter
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3085C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3085C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+87C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2509C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.240C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.508C>T
  hgvsp: ENSP00000299166.4:p.Arg170Ter
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3085C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2509C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17606
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg170Ter
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

10-102283670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283670
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283670
    reference: chr 10
allele count: 3
allele frequency: 2.474430880897394e-5
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.217C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.392C>T
  hgvsp: ENSP00000359346.1:p.Pro131Leu
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2486C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2486C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3062C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+64C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.485C>T
  hgvsp: ENSP00000299166.4:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3062C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3062C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+64C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro162Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

10-102283671-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283671
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283671
    reference: chr 10
allele count: 4
allele frequency: 3.299567756623883e-5
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+63C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3061C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.391C>G
  hgvsp: ENSP00000359346.1:p.Pro131Ala
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+63C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.484C>G
  hgvsp: ENSP00000299166.4:p.Pro162Ala
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2485C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3061C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.216C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3061C>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2485C>G
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6926
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro162Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

10-102283675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283675
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283675
    reference: chr 10
allele count: 2
allele frequency: 1.650818806127839e-5
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3057G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+59G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3057G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.212G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2481G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2481G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.387G>A
  hgvsp: ENST00000370322.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.480G>A
  hgvsp: ENST00000299166.4:c.480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3057G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+59G>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln160Gln
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-102283682-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283682
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283682
    reference: chr 10
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2474C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3050C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+52C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.380C>T
  hgvsp: ENSP00000359346.1:p.Pro127Leu
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3050C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.473C>T
  hgvsp: ENSP00000299166.4:p.Pro158Leu
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3050C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+52C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.205C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2474C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro158Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

10-102283683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283683
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283683
    reference: chr 10
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.472C>T
  hgvsp: ENSP00000299166.4:p.Pro158Ser
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.204C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3049C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3049C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2473C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.379C>T
  hgvsp: ENSP00000359346.1:p.Pro127Ser
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3049C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+51C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2473C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+51C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro158Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/10-102283685-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283685
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283685
    reference: chr 10
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.377G>T
  hgvsp: ENSP00000359346.1:p.Gly126Val
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3047G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3047G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.470G>T
  hgvsp: ENSP00000299166.4:p.Gly157Val
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2471G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2471G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+49G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+49G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.202G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3047G>T
  variant of: http://identifiers.org/hgnc/23197
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly157Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

10-102283690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283690
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283690
    reference: chr 10
allele count: 8
allele frequency: 6.628442647399993e-5
allele num: 120692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3042G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-4G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-4G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+44G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2466G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3042G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2466G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+44G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-4G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3042G>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29650
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: c.469-4G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

10-102283694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283694
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283694
    reference: chr 10
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-8T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-8T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+40T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3038T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2462T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3038T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-8T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2462T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.*152T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3038T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+40T>C
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.469-8T>C
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

10-102283703-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283703
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283703
    reference: chr 10
allele count: 1
allele frequency: 8.328613785521537e-6
allele num: 120068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3029T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+31T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-17T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.*143T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-17T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2453T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3029T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3029T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+31T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2453T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-17T>C
  variant of: http://identifiers.org/hgnc/7703
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/10-102283716-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283716
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283716
    reference: chr 10
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.*130G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-30G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2440G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+18G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-30G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2440G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-30G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3016G>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+18G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3016G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3016G>T
  variant of: http://identifiers.org/hgnc/7703
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

10-102283718-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283718
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283718
    reference: chr 10
allele count: 2
allele frequency: 1.67369619066747e-5
allele num: 119496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3014A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.*128A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2438A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+16A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3014A>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-32A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+16A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-32A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2438A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-32A>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3014A>G
  variant of: http://identifiers.org/hgnc/7703
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

10-102283726-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283726
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283726
    reference: chr 10
allele count: 1
allele frequency: 8.417650128790047e-6
allele num: 118798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+8C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-40C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-40C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2430C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+8C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-40C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3006C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3006C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2430C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.*120C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3006C>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16325
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*112+8C>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

10-102283732-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283732
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283732
    reference: chr 10
allele count: 1
allele frequency: 8.498342823149486e-6
allele num: 117670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2424T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+3000T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-46T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2424T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+2T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+2T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.*114T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+3000T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+3000T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-46T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-46T>C
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*112+2T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/10-102283733-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283733
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283733
    reference: chr 10
allele count: 7
allele frequency: 5.950559352579142e-5
allele num: 117636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112+1G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2999G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-47G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2999G>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.*113G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-47G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2423G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2423G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2999G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112+1G>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-47G>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18106
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*112+1G>T
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

10-102283734-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283734
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283734
    reference: chr 10
allele count: 2
allele frequency: 1.699581902851899e-5
allele num: 117676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2422G>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-48G>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*112G>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2998G>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2422G>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-48G>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*112G>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2998G>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.*112G>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2998G>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-48G>C
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*112G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

10-102283796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283796
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283796
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 50556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*367C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.*50C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-110C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2936C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-110C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-110C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2936C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2360C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2360C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2936C>T
  variant of: http://identifiers.org/hgnc/23197
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26967
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

10-102283806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283806
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283806
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 46026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.*40C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-120C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-120C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2350C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*357C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2926C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-120C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2926C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2926C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2350C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27722
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

10-102283827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283827
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283827
    reference: chr 10
allele count: 2
allele frequency: 4.956138177132378e-5
allele num: 40354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2905G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-141G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.*19G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-141G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*336G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2905G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2329G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2329G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2905G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-141G>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

10-102283854-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283854
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283854
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 35922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*309T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2302T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.511T>C
  hgvsp: ENST00000370320.4:c.511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2878T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-168T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2878T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.511T>C
  hgvsp: ENST00000531258.1:c.511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2878T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-168T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2302T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.511T>C
  hgvsp: ENST00000557395.1:c.511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-168T>C
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29330
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu171Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

10-102283862-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283862
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283861
    reference: chr 10
allele count: 1
allele frequency: 2.840263576459896e-5
allele num: 35208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2293delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.502delC
  hgvsp: ENSP00000359344.4:p.Leu168SerfsTer7
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*300delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-177delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.502delC
  hgvsp: ENSP00000433145.1:p.Leu168SerfsTer7
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.502delC
  hgvsp: ENSP00000456832.1:p.Leu168SerfsTer7
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2869delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2869delC
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2869delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2293delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-177delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-177delC
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 29525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu168SerfsTer7
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: AG
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

10-102283876-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283876
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283876
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 34198
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-190C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2280C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2856C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.489C>A
  hgvsp: ENSP00000433145.1:p.Tyr163Ter
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2856C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.489C>A
  hgvsp: ENSP00000456832.1:p.Tyr163Ter
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2280C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.489C>A
  hgvsp: ENSP00000359344.4:p.Tyr163Ter
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-190C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*287C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-190C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2856C>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29361
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr163Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

10-102283880-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283880
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283880
    reference: chr 10
allele count: 1
allele frequency: 2.937720329024677e-5
allele num: 34040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2276C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.485C>G
  hgvsp: ENSP00000456832.1:p.Ser162Cys
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.485C>G
  hgvsp: ENSP00000433145.1:p.Ser162Cys
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2852C>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-194C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2852C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-194C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*283C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-194C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2276C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.485C>G
  hgvsp: ENSP00000359344.4:p.Ser162Cys
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2852C>G
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12988
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29124
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser162Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

10-102283885-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283885
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283885
    reference: chr 10
allele count: 1
allele frequency: 2.943080816999235e-5
allele num: 33978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*278C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-199C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-199C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.480C>A
  hgvsp: ENSP00000359344.4:p.His160Gln
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2847C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2271C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2271C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-199C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.480C>A
  hgvsp: ENSP00000433145.1:p.His160Gln
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.480C>A
  hgvsp: ENSP00000456832.1:p.His160Gln
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2847C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2847C>A
  variant of: http://identifiers.org/hgnc/23197
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His160Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

10-102283900-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283900
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283898
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 33398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-216_201-215delTC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-216_376-215delTC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2254_468+2255delTC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2254_*266+2255delTC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2830_312+2831delTC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-6_*267-5delTC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-6_469-5delTC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-6_469-5delTC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2830_-284+2831delTC
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-216_469-215delTC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-6_469-5delTC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2830_*110+2831delTC
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27843
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.469-6_469-5delTC
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: TGA
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

10-102283905-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283905
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283902
    reference: chr 10
allele count: 2
allele frequency: 6.02627455706882e-5
allele num: 33188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-12_*267-10delTCT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-222_201-220delTCT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-222_469-220delTCT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-222_376-220delTCT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2824_-284+2826delTCT
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-12_469-10delTCT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-12_469-10delTCT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2824_312+2826delTCT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2824_*110+2826delTCT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-12_469-10delTCT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2248_*266+2250delTCT
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2248_468+2250delTCT
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27281
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: GAGA
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

10-102283908-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283908
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283908
    reference: chr 10
allele count: 3
allele frequency: 9.049773755656108e-5
allele num: 33150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2824T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2824T>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-222T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-12T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-222T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2824T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-222T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-12T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-12T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-12T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2248T>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2248T>C
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

10-102283918-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283918
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283918
    reference: chr 10
allele count: 1
allele frequency: 3.134403209628887e-5
allele num: 31904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2814C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-232C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2238C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-232C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-22C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2238C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-232C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-22C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-22C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2814C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2814C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-22C>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25135
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/10-102283922-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283922
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283922
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 32030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-26T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-26T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2810T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-236T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-236T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-26T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-236T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2810T>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2810T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2234T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-26T>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2234T>G
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25196
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

10-102283923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283923
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283923
    reference: chr 10
allele count: 21
allele frequency: 6.564551422319475e-4
allele num: 31990
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-237C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2233C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-27C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-27C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-237C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-27C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2809C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-237C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2233C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2809C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-27C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2809C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16957
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25027
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

10-102283924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283924
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283924
    reference: chr 10
allele count: 13
allele frequency: 4.074979625101874e-4
allele num: 31902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2232C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2808C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2232C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2808C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-28C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2808C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-28C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-28C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-238C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-28C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-238C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-238C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24924
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

10-102283928-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283928
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283928
    reference: chr 10
allele count: 1
allele frequency: 3.212128999100604e-5
allele num: 31132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2228C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-32C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2228C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-242C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-32C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2804C>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-242C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2804C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2804C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-32C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-32C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-242C>G
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

10-102283932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283932
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283932
    reference: chr 10
allele count: 1
allele frequency: 3.280409395092508e-5
allele num: 30484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2800C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-246C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2224C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-246C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-36C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-36C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-246C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2800C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2800C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-36C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-36C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2224C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17760
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24454
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

10-102283932-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283932
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283932
    reference: chr 10
allele count: 1
allele frequency: 3.280409395092508e-5
allele num: 30484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-36C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2800C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-36C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2224C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2224C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-36C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2800C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2800C>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-246C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-246C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-36C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-246C>G
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17760
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

10-102283932-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283932
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283932
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 30484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-36C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-36C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2224C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-36C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2224C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-246C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-246C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2800C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2800C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-36C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2800C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-246C>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24454
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17760
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

10-102283943-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283943
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283943
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 27516
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-47C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2789C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2789C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-47C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2213C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-47C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-257C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2789C>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-257C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-257C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-47C>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2213C>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 24851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18033
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

10-102283945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102283945
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102283945
    reference: chr 10
allele count: 1
allele frequency: 3.599971200230398e-5
allele num: 27778
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.469-259C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.376-259C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.469-49C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+2787C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+2787C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.201-259C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+2787C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*267-49C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.469-49C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+2211C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+2211C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.469-49C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

10-102286124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102286124
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102286124
    reference: chr 10
allele count: 1
allele frequency: 8.913768206371561e-6
allele num: 112186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*266+32G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000466088
  gene symbol: NDUFB8
  hgvsc: ENST00000466088.1:n.511G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+32G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.468+32G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+608G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.468+32G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.468+32G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.200+32G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.468+32G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.375+32G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+32G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+608G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+608G>A
  variant of: http://identifiers.org/hgnc/23197
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

10-102286125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102286125
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102286125
    reference: chr 10
allele count: 7
allele frequency: 6.219458018658373e-5
allele num: 112550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*266+31C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.375+31C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+31C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.468+31C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.200+31C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.468+31C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.468+31C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+607C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+607C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000466088
  gene symbol: NDUFB8
  hgvsc: ENST00000466088.1:n.510C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.468+31C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+607C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+31C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

10-102286130-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102286130
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102286130
    reference: chr 10
allele count: 1
allele frequency: 8.838450796344417e-6
allele num: 113142
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.468+26A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.468+26A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+26A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.468+26A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+602A>C
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.200+26A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*266+26A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.468+26A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+602A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000466088
  gene symbol: NDUFB8
  hgvsc: ENST00000466088.1:n.505A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+602A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.375+26A>C
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+26A>C
  variant of: http://identifiers.org/hgnc/7703
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

10-102286132-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102286132
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102286131
    reference: chr 10
allele count: 1
allele frequency: 8.822076363893005e-6
allele num: 113352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.200+23delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.468+23delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+23delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.468+23delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+599delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+599delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000466088
  gene symbol: NDUFB8
  hgvsc: ENST00000466088.1:n.502delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.375+23delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.468+23delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.468+23delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+599delC
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*266+23delC
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+23delC
  variant of: http://identifiers.org/hgnc/7703
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: AG
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

10-102286135-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102286135
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102286135
    reference: chr 10
allele count: 1
allele frequency: 8.793064031092274e-6
allele num: 113726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.468+21C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+21C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+597C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+21C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.468+21C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.375+21C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.468+21C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000466088
  gene symbol: NDUFB8
  hgvsc: ENST00000466088.1:n.500C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.468+21C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.200+21C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+597C>G
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+597C>G
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*266+21C>G
  variant of: http://identifiers.org/hgnc/7703
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22826
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

10-102286138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102286138
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102286138
    reference: chr 10
allele count: 1
allele frequency: 8.769929665164086e-6
allele num: 114026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+18G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.375+18G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+18G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.468+18G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.468+18G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+594G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*266+18G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+594G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.200+18G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000466088
  gene symbol: NDUFB8
  hgvsc: ENST00000466088.1:n.497G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+594G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.468+18G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.468+18G>A
  variant of: http://identifiers.org/hgnc/7703
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

10-102286145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102286145
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102286145
    reference: chr 10
allele count: 95
allele frequency: 8.249535420899981e-4
allele num: 115158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.468+11G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*266+11G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+11G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.375+11G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.468+11G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.200+11G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.468+11G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000466088
  gene symbol: NDUFB8
  hgvsc: ENST00000466088.1:n.490G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.468+11G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+587G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+587G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+587G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+11G>A
  variant of: http://identifiers.org/hgnc/7703
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18810
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23687
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

10-102286146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102286146
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102286146
    reference: chr 10
allele count: 4
allele frequency: 3.462723778524187e-5
allele num: 115516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*266+10C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.468+10C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.200+10C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+586C>T
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.468+10C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*266+10C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.468+10C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+586C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.468+10C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.375+10C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+586C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000466088
  gene symbol: NDUFB8
  hgvsc: ENST00000466088.1:n.489C>T
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.468+10C>T
  variant of: http://identifiers.org/hgnc/7703
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18941
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

10-102286158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102286158
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 102286158
    reference: chr 10
allele count: 1
allele frequency: 8.480901010923401e-6
allele num: 117912
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000299166
  ensembl transcript: ENST00000299166
  gene symbol: NDUFB8
  hgvsc: ENST00000299166.4:c.466G>A
  hgvsp: ENSP00000299166.4:p.Val156Met
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455597
  ensembl transcript: ENST00000529568
  gene symbol: NDUFB8
  hgvsc: ENST00000529568.1:c.466G>A
  hgvsp: ENSP00000455597.1:p.Val156Met
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359346
  ensembl transcript: ENST00000370322
  gene symbol: NDUFB8
  hgvsc: ENST00000370322.1:c.373G>A
  hgvsp: ENSP00000359346.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000433145
  ensembl transcript: ENST00000531258
  gene symbol: NDUFB8
  hgvsc: ENST00000531258.1:c.466G>A
  hgvsp: ENSP00000433145.1:p.Val156Met
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000455090
  ensembl transcript: ENST00000527595
  gene symbol: NDUFB8
  hgvsc: ENST00000527595.1:c.312+574G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000464651
  gene symbol: NDUFB8
  hgvsc: ENST00000464651.1:n.198G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456355
  ensembl transcript: ENST00000528174
  gene symbol: NDUFB8
  hgvsc: ENST00000528174.1:c.*110+574G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166136
  ensembl transcript: ENST00000466088
  gene symbol: NDUFB8
  hgvsc: ENST00000466088.1:n.477G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000359344
  ensembl transcript: ENST00000370320
  gene symbol: NDUFB8
  hgvsc: ENST00000370320.4:c.466G>A
  hgvsp: ENSP00000359344.4:p.Val156Met
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456832
  ensembl transcript: ENST00000557395
  gene symbol: NDUFB8
  hgvsc: ENST00000557395.1:c.466G>A
  hgvsp: ENSP00000456832.1:p.Val156Met
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075826
  ensembl protein: ENSP00000442621
  ensembl transcript: ENST00000535773
  gene symbol: SEC31B
  hgvsc: ENST00000535773.1:c.-284+574G>A
  variant of: http://identifiers.org/hgnc/23197
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166136
  ensembl protein: ENSP00000434072
  ensembl transcript: ENST00000528425
  gene symbol: NDUFB8
  hgvsc: ENST00000528425.1:c.*264G>A
  variant of: http://identifiers.org/hgnc/7703
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255339
  ensembl protein: ENSP00000456407
  ensembl transcript: ENST00000533549
  gene symbol: NDUFB8
  hgvsc: ENST00000533549.1:c.*264G>A
  variant of: http://identifiers.org/hgnc/7703
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val156Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

GenotypeDepth
all individuals: 940
bin: 4.25e1
variant carriers: 28

GenotypeDepth
all individuals: 171
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 132
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1952
bin: 3.75e1
variant carriers: 34

GenotypeDepth
all individuals: 650
bin: 4.75e1
variant carriers: 13

GenotypeDepth
all individuals: 21395
bin: 2.75e1
variant carriers: 22

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16336
bin: 2.25e1
variant carriers: 9

GenotypeDepth
all individuals: 542
bin: 5.25e1
variant carriers: 8

GenotypeDepth
all individuals: 255
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32088
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2495
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3381
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 512
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4162
bin: 9.75e1
variant carriers: 167

GenotypeQuality
all individuals: 6892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

East Asian
type: Population
allele count: 172
allele frequency: 2.019253345855835e-2
allele num: 8518
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.046551303923958e-5
allele num: 65648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.2306177701206e-4
allele num: 16252
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.68e-2

DP
type: SiteQuality
SIO_000300: 1.64061e6

QD
type: SiteQuality
SIO_000300: 1.545e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 137
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3596
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 535
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7386
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2438
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6788
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4002
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 360
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30806
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65584
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.866e0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

DP
type: SiteQuality
SIO_000300: 1.624325e6

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14294
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6921
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 535
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6990
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1881
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27750
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3315
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2058
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528164063693878e-5
allele num: 65438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

DP
type: SiteQuality
SIO_000300: 1.591421e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

GenotypeDepth
all individuals: 8807
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17576
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6335
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7611
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13022
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3996
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1537
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2319
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3989
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24023
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532144389287247e-5
allele num: 65268
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.21e-1

FS
type: SiteQuality
SIO_000300: 3.9e0

QD
type: SiteQuality
SIO_000300: 7.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.589e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.071e0

DP
type: SiteQuality
SIO_000300: 1.549378e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

GenotypeDepth
all individuals: 566
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5182
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 636
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3995
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3073
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4937
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4167
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.215040397762585e-5
allele num: 16090
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.484987e6

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

Latino
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Other
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East Asian
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South Asian
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African
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European (Non-Finnish)
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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QD
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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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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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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DP
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QD
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MQ
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VQSLOD
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ClippingRankSum
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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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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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European (Finnish)
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Other
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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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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East Asian
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African
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South Asian
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Latino
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Other
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European (Non-Finnish)
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European (Finnish)
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FS
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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MQRankSum
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QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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East Asian
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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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MQ
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.62639e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.63216e6

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 5.029e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 3.945e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

QD
type: SiteQuality
SIO_000300: 1.729e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 1.6366e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.466e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

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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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
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: 16464
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

QD
type: SiteQuality
SIO_000300: 1.729e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.466e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 3.945e0

DP
type: SiteQuality
SIO_000300: 1.6366e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

QD
type: SiteQuality
SIO_000300: 2.552e1

VQSLOD
type: SiteQuality
SIO_000300: -2.304e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.639038e6

FS
type: SiteQuality
SIO_000300: 4.986e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 1581
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66696
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: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 6.62e0

DP
type: SiteQuality
SIO_000300: 1.639041e6

FS
type: SiteQuality
SIO_000300: 1.957e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.805e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.943e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.611e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.129e0

ReadPosRankSum
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SIO_000300: 1.19e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.619999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.640086e6

ClippingRankSum
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SIO_000300: -1.195e0

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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bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -7.783e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.974e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

MQ
type: SiteQuality
SIO_000300: 5.474e1

InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.64003e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.39e-1

GenotypeQuality
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GenotypeQuality
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variant carriers: 181

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

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

African
type: Population
allele count: 175
allele frequency: 1.683015964608579e-2
allele num: 10398
num of homozygotes: 3

Latino
type: Population
allele count: 4
allele frequency: 3.462004500605851e-4
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
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: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.189e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 1.64821e6

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.413e0

DP
type: SiteQuality
SIO_000300: 1.640603e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.84e1

VQSLOD
type: SiteQuality
SIO_000300: -8.792e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.326e1

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
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bin: 1.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 16496
num of homozygotes: 0

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

Latino
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allele count: 6
allele frequency: 5.193905817174516e-4
allele num: 11552
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.640686e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.638709e6

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.656e0

QD
type: SiteQuality
SIO_000300: 1.138e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

FS
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 1572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.001680470531749e-5
allele num: 66648
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

DP
type: SiteQuality
SIO_000300: 1.638661e6

MQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

FS
type: SiteQuality
SIO_000300: 3.575e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-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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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.215214485356665e-4
allele num: 16458
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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VQSLOD
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SIO_000300: 1.21e0

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.3e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11488
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -7.93e-1

MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
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DP
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SIO_000300: 1.632258e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.652509652509652e-5
allele num: 10360
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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QD
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BaseQRankSum
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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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GenotypeQuality
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European (Finnish)
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 8.710801393728223e-5
allele num: 11480
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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 906
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South Asian
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ClippingRankSum
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SIO_000300: 8.100000000000001e-1

MQ
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SIO_000300: 5.942e1

MQRankSum
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SIO_000300: 7.0e-3

DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: -4.75e-1

QD
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VQSLOD
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SIO_000300: 3.51e-1

FS
type: SiteQuality
SIO_000300: 4.279e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.247e0

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

European (Non-Finnish)
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allele count: 8
allele frequency: 1.204746702005903e-4
allele num: 66404
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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African
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InbreedingCoeff
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SIO_000300: -2.0e-4

DP
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.107e0

MQRankSum
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SIO_000300: 7.55e-1

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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QD
type: SiteQuality
SIO_000300: 1.74e1

FS
type: SiteQuality
SIO_000300: 5.131e0

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

MQRankSum
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SIO_000300: 1.34e0

ReadPosRankSum
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SIO_000300: 6.929999999999999e-1

DP
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SIO_000300: 1.621256e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513179796023364e-5
allele num: 66086
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

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

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

Latino
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allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

InbreedingCoeff
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SIO_000300: -5.0e-4

FS
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SIO_000300: 3.358e0

DP
type: SiteQuality
SIO_000300: 1.592047e6

VQSLOD
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SIO_000300: -6.69e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.798e1

MQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.782821365681862e-5
allele num: 10222
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Other
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allele count: 0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65860
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South Asian
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East Asian
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FS
type: SiteQuality
SIO_000300: 6.08e0

QD
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MQ
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: 1.3e-3

MQRankSum
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SIO_000300: -5.0e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519202722411279e-5
allele num: 65824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

African
type: Population
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allele frequency: 9.782821365681862e-5
allele num: 10222
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
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South Asian
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MQRankSum
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SIO_000300: 1.34e0

ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 9.11e-1

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

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

Latino
type: Population
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allele frequency: 8.926977325477593e-5
allele num: 11202
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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East Asian
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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MQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.540309910353963e-5
allele num: 64922
num of homozygotes: 0

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

Other
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East Asian
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South Asian
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num of homozygotes: 0

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

DP
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -4.86e-1

BaseQRankSum
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SIO_000300: 4.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.07871540405597e-4
allele num: 64892
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.443938e6

FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 1.2e-3

QD
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ReadPosRankSum
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SIO_000300: 4.48e-1

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -2.34e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 3.081569135003544e-5
allele num: 64902
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

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

Latino
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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FS
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MQ
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SIO_000300: 6.0e1

QD
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BaseQRankSum
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SIO_000300: -1.883e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3440
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2616
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -2.704e0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -5.73e-1

QD
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InbreedingCoeff
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SIO_000300: -1.84e-2

FS
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ReadPosRankSum
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SIO_000300: -5.73e-1

ClippingRankSum
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SIO_000300: 6.929999999999999e-1

MQRankSum
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SIO_000300: -6.929999999999999e-1

DP
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SIO_000300: 8.50337e5

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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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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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2840
num of homozygotes: 0

East Asian
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South Asian
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allele num: 9086
num of homozygotes: 0

Other
type: Population
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Latino
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.896871378910776e-4
allele num: 3452
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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FS
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16936
num of homozygotes: 0

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

African
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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DP
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SIO_000300: 7.60323e5

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2510
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 1966
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 3.748125937031484e-4
allele num: 2668
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 16856
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Latino
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num of homozygotes: 0

Other
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ClippingRankSum
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SIO_000300: 7.31e-1

BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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QD
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DP
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ReadPosRankSum
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SIO_000300: -2.96e-1

MQ
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InbreedingCoeff
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SIO_000300: -2.62e-2

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2648
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 5.941770647653e-5
allele num: 16830
num of homozygotes: 0

Other
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num of homozygotes: 0

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

East Asian
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South Asian
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VQSLOD
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SIO_000300: -2.737e0

FS
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SIO_000300: 5.659999999999999e-1

ReadPosRankSum
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -2.62e-2

DP
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SIO_000300: 7.55269e5

QD
type: SiteQuality
SIO_000300: 8.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 999
bin: 3.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2466
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

ReadPosRankSum
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SIO_000300: 5.5e-1

BaseQRankSum
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SIO_000300: 5.5e-1

MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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SIO_000300: 8.451000000000001e0

MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 7.43355e5

VQSLOD
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SIO_000300: 7.11e-1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 2
allele frequency: 1.655629139072848e-3
allele num: 1208
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

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

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

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

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

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

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

South Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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QD
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FS
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BaseQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1128
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

South Asian
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -3.58e-1

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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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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SIO_000300: 3.58e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1134
num of homozygotes: 0

European (Non-Finnish)
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allele count: 17
allele frequency: 1.088487642463824e-3
allele num: 15618
num of homozygotes: 0

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

South Asian
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allele frequency: 4.804227720393946e-4
allele num: 8326
num of homozygotes: 0

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

Other
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allele count: 0
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East Asian
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QD
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.2e-2

MQ
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SIO_000300: 6.0e1

FS
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -3.34e-2

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

African
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allele count: 13
allele frequency: 5.508474576271186e-3
allele num: 2360
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 15078
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 9.140767824497258e-4
allele num: 1094
num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 0
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Other
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 8.25e-1

QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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SIO_000300: 3.88e0

DP
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VQSLOD
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SIO_000300: -8.152e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 5.85480093676815e-4
allele num: 1708
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14682
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 6.811061163329247e-5
allele num: 14682
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Latino
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African
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East Asian
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South Asian
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num of homozygotes: 0

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

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

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

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

East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
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VQSLOD
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QD
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InbreedingCoeff
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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FS
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Latino
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allele num: 11288
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Other
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VQSLOD
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ClippingRankSum
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 9.154155986818015e-5
allele num: 10924
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.778953264048789e-5
allele num: 64276
num of homozygotes: 0

African
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allele num: 10180
num of homozygotes: 0

Latino
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European (Finnish)
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num of homozygotes: 0

East Asian
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QD
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ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6500
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Latino
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African
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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FS
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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South Asian
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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FS
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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African
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Latino
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South Asian
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VQSLOD
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MQ
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ClippingRankSum
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QD
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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African
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Other
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ClippingRankSum
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SIO_000300: -3.23e-1

BaseQRankSum
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MQ
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SIO_000300: 5.986e1

FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
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SIO_000300: -1.4e-3

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele num: 65160
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Latino
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Other
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East Asian
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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SIO_000300: -1.47e-1

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