11-47598944-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598944
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598944
    reference: chr 11
allele count: 1
allele frequency: 8.875161971705983e-6
allele num: 112674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3133G>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.664+19C>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*590+19C>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.637+19C>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.589+19C>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.589+19C>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.736+19C>A
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6790
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

11-47598944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598944
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598944
    reference: chr 11
allele count: 1
allele frequency: 8.875161971705983e-6
allele num: 112674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3133G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.736+19C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*590+19C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.589+19C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.664+19C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.637+19C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.589+19C>T
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

11-47598946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598946
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598946
    reference: chr 11
allele count: 1
allele frequency: 8.864462370357237e-6
allele num: 112810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*590+17G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.589+17G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.589+17G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.637+17G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.736+17G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.664+17G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3131C>T
  variant of: http://identifiers.org/hgnc/7710
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

11-47598948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598948
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598948
    reference: chr 11
allele count: 2
allele frequency: 1.767096660187312e-5
allele num: 113180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.589+15G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.637+15G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3129C>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*590+15G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.589+15G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.736+15G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.664+15G>A
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

11-47598951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598951
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598951
    reference: chr 11
allele count: 30
allele frequency: 2.640798577489833e-4
allele num: 113602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*590+12G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3126C>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.637+12G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.589+12G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.664+12G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.736+12G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.589+12G>A
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6824
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

11-47598959-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598959
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598959
    reference: chr 11
allele count: 1
allele frequency: 8.717787774174425e-6
allele num: 114708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.593A>C
  hgvsp: ENSP00000433404.1:p.Lys198Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.589+4A>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.664+4A>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*590+4A>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.589+4A>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.637+4A>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.736+4A>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3118T>G
  variant of: http://identifiers.org/hgnc/7710
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys198Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-47598964-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598964
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598964
    reference: chr 11
allele count: 6
allele frequency: 5.19588485919152e-5
allele num: 115476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3113C>G
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.663G>C
  hgvsp: ENST00000533290.1:c.663G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*589G>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.636G>C
  hgvsp: ENST00000430070.2:c.636G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.735G>C
  hgvsp: ENST00000525720.1:c.735G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.588G>C
  hgvsp: ENST00000526005.1:c.588G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.588G>C
  hgvsp: ENST00000395288.2:c.588G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.588G>C
  hgvsp: ENST00000529499.1:c.588G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
hgvs: c.636G>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

11-47598964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598964
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598964
    reference: chr 11
allele count: 7
allele frequency: 6.061865669056774e-5
allele num: 115476
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.636G>A
  hgvsp: ENST00000430070.2:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.588G>A
  hgvsp: ENST00000529499.1:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*589G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.588G>A
  hgvsp: ENST00000526005.1:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.735G>A
  hgvsp: ENST00000525720.1:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.588G>A
  hgvsp: ENST00000395288.2:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.663G>A
  hgvsp: ENST00000533290.1:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3113C>T
  variant of: http://identifiers.org/hgnc/7710
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18230
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
hgvs: c.636G>A
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-47598965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598965
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598965
    reference: chr 11
allele count: 3
allele frequency: 2.588036370537794e-5
allele num: 115918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*588C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.587C>T
  hgvsp: ENSP00000433404.1:p.Ser196Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.662C>T
  hgvsp: ENSP00000436713.1:p.Ser221Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.635C>T
  hgvsp: ENSP00000415106.2:p.Ser212Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.587C>T
  hgvsp: ENSP00000378703.2:p.Ser196Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.587C>T
  hgvsp: ENSP00000433340.1:p.Ser196Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.734C>T
  hgvsp: ENSP00000434477.1:p.Ser245Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3112G>A
  variant of: http://identifiers.org/hgnc/7710
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser212Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

11-47598971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598971
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598971
    reference: chr 11
allele count: 2
allele frequency: 1.709664734745516e-5
allele num: 116982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.656T>C
  hgvsp: ENSP00000436713.1:p.Ile219Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.728T>C
  hgvsp: ENSP00000434477.1:p.Ile243Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.581T>C
  hgvsp: ENSP00000433404.1:p.Ile194Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3106A>G
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.629T>C
  hgvsp: ENSP00000415106.2:p.Ile210Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*582T>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.581T>C
  hgvsp: ENSP00000378703.2:p.Ile194Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.581T>C
  hgvsp: ENSP00000433340.1:p.Ile194Thr
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile210Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

11-47598974-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598974
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598974
    reference: chr 11
allele count: 7
allele frequency: 5.964350226645308e-5
allele num: 117364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.725A>C
  hgvsp: ENSP00000434477.1:p.Asp242Ala
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.578A>C
  hgvsp: ENSP00000378703.2:p.Asp193Ala
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.578A>C
  hgvsp: ENSP00000433404.1:p.Asp193Ala
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.626A>C
  hgvsp: ENSP00000415106.2:p.Asp209Ala
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.578A>C
  hgvsp: ENSP00000433340.1:p.Asp193Ala
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3103T>G
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*579A>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.653A>C
  hgvsp: ENSP00000436713.1:p.Asp218Ala
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp209Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

11-47598977-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598977
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598977
    reference: chr 11
allele count: 1
allele frequency: 8.485074753508579e-6
allele num: 117854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.575C>G
  hgvsp: ENSP00000378703.2:p.Thr192Arg
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.623C>G
  hgvsp: ENSP00000415106.2:p.Thr208Arg
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.650C>G
  hgvsp: ENSP00000436713.1:p.Thr217Arg
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*576C>G
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3100G>C
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.575C>G
  hgvsp: ENSP00000433404.1:p.Thr192Arg
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.575C>G
  hgvsp: ENSP00000433340.1:p.Thr192Arg
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.722C>G
  hgvsp: ENSP00000434477.1:p.Thr241Arg
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr208Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-47598981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598981
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598981
    reference: chr 11
allele count: 1
allele frequency: 8.453799983092399e-6
allele num: 118290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.646C>T
  hgvsp: ENSP00000436713.1:p.Leu216Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.718C>T
  hgvsp: ENSP00000434477.1:p.Leu240Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.571C>T
  hgvsp: ENSP00000433340.1:p.Leu191Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.571C>T
  hgvsp: ENSP00000433404.1:p.Leu191Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.619C>T
  hgvsp: ENSP00000415106.2:p.Leu207Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.571C>T
  hgvsp: ENSP00000378703.2:p.Leu191Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3096G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*572C>T
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu207Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

11-47598984-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598984
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598984
    reference: chr 11
allele count: 2
allele frequency: 1.68381350081665e-5
allele num: 118778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.715T>C
  hgvsp: ENST00000525720.1:c.715T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3093A>G
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.568T>C
  hgvsp: ENST00000529499.1:c.568T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.643T>C
  hgvsp: ENST00000533290.1:c.643T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*569T>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.568T>C
  hgvsp: ENST00000395288.2:c.568T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.616T>C
  hgvsp: ENST00000430070.2:c.616T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.568T>C
  hgvsp: ENST00000526005.1:c.568T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu206Leu
num of homozygotes: 1
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

11-47598985-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598985
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598985
    reference: chr 11
allele count: 1
allele frequency: 8.411985396793351e-6
allele num: 118878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*568C>G
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.567C>G
  hgvsp: ENST00000395288.2:c.567C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.642C>G
  hgvsp: ENST00000533290.1:c.642C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.615C>G
  hgvsp: ENST00000430070.2:c.615C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3092G>C
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.567C>G
  hgvsp: ENST00000529499.1:c.567C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.714C>G
  hgvsp: ENST00000525720.1:c.714C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.567C>G
  hgvsp: ENST00000526005.1:c.567C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg205Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-47598986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598986
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598986
    reference: chr 11
allele count: 2
allele frequency: 1.681633202165944e-5
allele num: 118932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.566G>A
  hgvsp: ENSP00000433404.1:p.Arg189His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.614G>A
  hgvsp: ENSP00000415106.2:p.Arg205His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.566G>A
  hgvsp: ENSP00000378703.2:p.Arg189His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.566G>A
  hgvsp: ENSP00000433340.1:p.Arg189His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.641G>A
  hgvsp: ENSP00000436713.1:p.Arg214His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*567G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.713G>A
  hgvsp: ENSP00000434477.1:p.Arg238His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3091C>T
  variant of: http://identifiers.org/hgnc/7710
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg205His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

11-47598987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598987
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598987
    reference: chr 11
allele count: 2
allele frequency: 1.675687450776681e-5
allele num: 119354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.565C>T
  hgvsp: ENSP00000433404.1:p.Arg189Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.712C>T
  hgvsp: ENSP00000434477.1:p.Arg238Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*566C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.565C>T
  hgvsp: ENSP00000378703.2:p.Arg189Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.613C>T
  hgvsp: ENSP00000415106.2:p.Arg205Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.640C>T
  hgvsp: ENSP00000436713.1:p.Arg214Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3090G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.565C>T
  hgvsp: ENSP00000433340.1:p.Arg189Cys
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg205Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-47598987-GGTGGGGCAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598987
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598978
    reference: chr 11
allele count: 1
allele frequency: 8.378437253883405e-6
allele num: 119354
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.604_612delTTGCCCCAC
  hgvsp: ENSP00000415106.2:p.Leu202_His204del
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.703_711delTTGCCCCAC
  hgvsp: ENSP00000434477.1:p.Leu235_His237del
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.556_564delTTGCCCCAC
  hgvsp: ENSP00000433404.1:p.Leu186_His188del
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.631_639delTTGCCCCAC
  hgvsp: ENSP00000436713.1:p.Leu211_His213del
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.556_564delTTGCCCCAC
  hgvsp: ENSP00000378703.2:p.Leu186_His188del
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.556_564delTTGCCCCAC
  hgvsp: ENSP00000433340.1:p.Leu186_His188del
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  variant of: http://identifiers.org/hgnc/7710
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu202_His204del
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: GGTGGGGCAA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

11-47598991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598991
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598991
    reference: chr 11
allele count: 2
allele frequency: 1.67022982362373e-5
allele num: 119744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.561C>T
  hgvsp: ENST00000395288.2:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.708C>T
  hgvsp: ENST00000525720.1:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.609C>T
  hgvsp: ENST00000430070.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.561C>T
  hgvsp: ENST00000529499.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3086G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.636C>T
  hgvsp: ENST00000533290.1:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.561C>T
  hgvsp: ENST00000526005.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*562C>T
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro203Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

11-47598993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598993
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598993
    reference: chr 11
allele count: 5
allele frequency: 4.170141784820684e-5
allele num: 119900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*560C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3084G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.607C>T
  hgvsp: ENSP00000415106.2:p.Pro203Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.634C>T
  hgvsp: ENSP00000436713.1:p.Pro212Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.706C>T
  hgvsp: ENSP00000434477.1:p.Pro236Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.559C>T
  hgvsp: ENSP00000378703.2:p.Pro187Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.559C>T
  hgvsp: ENSP00000433340.1:p.Pro187Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.559C>T
  hgvsp: ENSP00000433404.1:p.Pro187Ser
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro203Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/11-47598996-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47598996
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47598996
    reference: chr 11
allele count: 1
allele frequency: 8.314763694415805e-6
allele num: 120268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.631T>G
  hgvsp: ENSP00000436713.1:p.Leu211Val
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3081A>C
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.556T>G
  hgvsp: ENSP00000433340.1:p.Leu186Val
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.604T>G
  hgvsp: ENSP00000415106.2:p.Leu202Val
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*557T>G
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.703T>G
  hgvsp: ENSP00000434477.1:p.Leu235Val
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.556T>G
  hgvsp: ENSP00000433404.1:p.Leu186Val
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.556T>G
  hgvsp: ENSP00000378703.2:p.Leu186Val
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu202Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-47599010-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599010
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599010
    reference: chr 11
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.617A>G
  hgvsp: ENSP00000436713.1:p.Glu206Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.542A>G
  hgvsp: ENSP00000433340.1:p.Glu181Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.689A>G
  hgvsp: ENSP00000434477.1:p.Glu230Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.590A>G
  hgvsp: ENSP00000415106.2:p.Glu197Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.542A>G
  hgvsp: ENSP00000378703.2:p.Glu181Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.542A>G
  hgvsp: ENSP00000433404.1:p.Glu181Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3067T>C
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*543A>G
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu197Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

11-47599021-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599021
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599021
    reference: chr 11
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*532G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.579G>A
  hgvsp: ENST00000430070.2:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.606G>A
  hgvsp: ENST00000533290.1:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.678G>A
  hgvsp: ENST00000525720.1:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3056C>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.531G>A
  hgvsp: ENST00000526005.1:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.531G>A
  hgvsp: ENST00000395288.2:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.531G>A
  hgvsp: ENST00000529499.1:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu193Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

11-47599027-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599027
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599027
    reference: chr 11
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.672C>G
  hgvsp: ENST00000525720.1:c.672C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.600C>G
  hgvsp: ENST00000533290.1:c.600C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.573C>G
  hgvsp: ENST00000430070.2:c.573C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*526C>G
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.525C>G
  hgvsp: ENST00000395288.2:c.525C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.525C>G
  hgvsp: ENST00000529499.1:c.525C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3050G>C
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.525C>G
  hgvsp: ENST00000526005.1:c.525C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala191Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

11-47599030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599030
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599030
    reference: chr 11
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3047C>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*523G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.570G>A
  hgvsp: ENST00000430070.2:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.597G>A
  hgvsp: ENST00000533290.1:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.522G>A
  hgvsp: ENST00000526005.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.522G>A
  hgvsp: ENST00000395288.2:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.522G>A
  hgvsp: ENST00000529499.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.669G>A
  hgvsp: ENST00000525720.1:c.669G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu190Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

11-47599040-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599040
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599040
    reference: chr 11
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.659A>G
  hgvsp: ENSP00000434477.1:p.Lys220Arg
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.560A>G
  hgvsp: ENSP00000415106.2:p.Lys187Arg
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.587A>G
  hgvsp: ENSP00000436713.1:p.Lys196Arg
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.512A>G
  hgvsp: ENSP00000378703.2:p.Lys171Arg
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*513A>G
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3037T>C
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.512A>G
  hgvsp: ENSP00000433340.1:p.Lys171Arg
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.512A>G
  hgvsp: ENSP00000433404.1:p.Lys171Arg
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys187Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

11-47599044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599044
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599044
    reference: chr 11
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.508G>A
  hgvsp: ENSP00000433340.1:p.Ala170Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.508G>A
  hgvsp: ENSP00000378703.2:p.Ala170Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.583G>A
  hgvsp: ENSP00000436713.1:p.Ala195Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.508G>A
  hgvsp: ENSP00000433404.1:p.Ala170Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*509G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.556G>A
  hgvsp: ENSP00000415106.2:p.Ala186Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.655G>A
  hgvsp: ENSP00000434477.1:p.Ala219Thr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3033C>T
  variant of: http://identifiers.org/hgnc/7710
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala186Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-47599046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599046
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599046
    reference: chr 11
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.506G>A
  hgvsp: ENSP00000378703.2:p.Cys169Tyr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*507G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.506G>A
  hgvsp: ENSP00000433340.1:p.Cys169Tyr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.554G>A
  hgvsp: ENSP00000415106.2:p.Cys185Tyr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.581G>A
  hgvsp: ENSP00000436713.1:p.Cys194Tyr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.506G>A
  hgvsp: ENSP00000433404.1:p.Cys169Tyr
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3031C>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.653G>A
  hgvsp: ENSP00000434477.1:p.Cys218Tyr
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys185Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-47599050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599050
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599050
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.649C>A
  hgvsp: ENSP00000434477.1:p.His217Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3027G>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.577C>A
  hgvsp: ENSP00000436713.1:p.His193Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*503C>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.502C>A
  hgvsp: ENSP00000433404.1:p.His168Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.550C>A
  hgvsp: ENSP00000415106.2:p.His184Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.502C>A
  hgvsp: ENSP00000378703.2:p.His168Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.502C>A
  hgvsp: ENSP00000433340.1:p.His168Asn
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25967
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His184Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

11-47599058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599058
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599058
    reference: chr 11
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.494C>T
  hgvsp: ENSP00000433404.1:p.Ala165Val
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.641C>T
  hgvsp: ENSP00000434477.1:p.Ala214Val
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*495C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.569C>T
  hgvsp: ENSP00000436713.1:p.Ala190Val
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.494C>T
  hgvsp: ENSP00000378703.2:p.Ala165Val
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.494C>T
  hgvsp: ENSP00000433340.1:p.Ala165Val
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.542C>T
  hgvsp: ENSP00000415106.2:p.Ala181Val
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3019G>A
  variant of: http://identifiers.org/hgnc/7710
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala181Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-47599060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599060
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599060
    reference: chr 11
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.639G>A
  hgvsp: ENST00000525720.1:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.492G>A
  hgvsp: ENST00000395288.2:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.492G>A
  hgvsp: ENST00000526005.1:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.567G>A
  hgvsp: ENST00000533290.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3017C>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.492G>A
  hgvsp: ENST00000529499.1:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.540G>A
  hgvsp: ENST00000430070.2:c.540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*493G>A
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr180Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

11-47599061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599061
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599061
    reference: chr 11
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.491C>T
  hgvsp: ENSP00000378703.2:p.Thr164Met
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.566C>T
  hgvsp: ENSP00000436713.1:p.Thr189Met
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.539C>T
  hgvsp: ENSP00000415106.2:p.Thr180Met
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.491C>T
  hgvsp: ENSP00000433340.1:p.Thr164Met
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3016G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.491C>T
  hgvsp: ENSP00000433404.1:p.Thr164Met
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*492C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.638C>T
  hgvsp: ENSP00000434477.1:p.Thr213Met
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr180Met
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

11-47599065-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599065
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599065
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.487T>A
  hgvsp: ENSP00000433340.1:p.Tyr163Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.487T>A
  hgvsp: ENSP00000433404.1:p.Tyr163Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.535T>A
  hgvsp: ENSP00000415106.2:p.Tyr179Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3012A>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.487T>A
  hgvsp: ENSP00000378703.2:p.Tyr163Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.562T>A
  hgvsp: ENSP00000436713.1:p.Tyr188Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*488T>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.634T>A
  hgvsp: ENSP00000434477.1:p.Tyr212Asn
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr179Asn
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

11-47599069-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599069
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599068
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.482delA
  hgvsp: ENSP00000433340.1:p.Glu161GlyfsTer49
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3007delT
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.482delA
  hgvsp: ENSP00000433653.1:p.Glu161del
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.629delA
  hgvsp: ENSP00000434477.1:p.Glu210GlyfsTer49
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*483delA
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.557delA
  hgvsp: ENSP00000436713.1:p.Glu186GlyfsTer49
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.530delA
  hgvsp: ENSP00000415106.2:p.Glu177GlyfsTer49
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.482delA
  hgvsp: ENSP00000433404.1:p.Glu161GlyfsTer?
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.482delA
  hgvsp: ENSP00000378703.2:p.Glu161GlyfsTer49
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu177GlyfsTer49
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: CT
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/11-47599071-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599071
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599070
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.480delT
  hgvsp: ENSP00000433653.1:p.Pro161ProfsTer?
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*481delT
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.480delT
  hgvsp: ENSP00000433404.1:p.Glu161SerfsTer?
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.480delT
  hgvsp: ENSP00000433340.1:p.Glu161SerfsTer49
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.627delT
  hgvsp: ENSP00000434477.1:p.Glu210SerfsTer49
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3005delA
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.480delT
  hgvsp: ENSP00000378703.2:p.Glu161SerfsTer49
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.528delT
  hgvsp: ENSP00000415106.2:p.Glu177SerfsTer49
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.555delT
  hgvsp: ENSP00000436713.1:p.Glu186SerfsTer49
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu177SerfsTer49
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: CA
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

11-47599073-G-GTATA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599073
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599077
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: GTATA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.526_527insTATA
  hgvsp: ENSP00000415106.2:p.Pro176LeufsTer3
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.478_479insTATA
  hgvsp: ENSP00000378703.2:p.Pro160LeufsTer3
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.553_554insTATA
  hgvsp: ENSP00000436713.1:p.Pro185LeufsTer3
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3004_816-3003insTATA
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.478_479insTATA
  hgvsp: ENSP00000433340.1:p.Pro160LeufsTer3
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.478_479insTATA
  hgvsp: ENSP00000433404.1:p.Pro160LeufsTer3
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.625_626insTATA
  hgvsp: ENSP00000434477.1:p.Pro209LeufsTer3
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.478_479insTATA
  hgvsp: ENSP00000433653.1:p.Pro160LeufsTer3
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*479_*480insTATA
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro176LeufsTer3
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-47599075-ATCAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599075
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599071
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*474_*477delGTGA
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3000_816-2997delCACT
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.473_476delGTGA
  hgvsp: ENSP00000378703.2:p.Ser158IlefsTer51
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.473_476delGTGA
  hgvsp: ENSP00000433653.1:p.Ser158IlefsTer?
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.473_476delGTGA
  hgvsp: ENSP00000435651.1:p.Ser158_Asp159del
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.473_476delGTGA
  hgvsp: ENSP00000433340.1:p.Ser158IlefsTer51
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.521_524delGTGA
  hgvsp: ENSP00000415106.2:p.Ser174IlefsTer51
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.548_551delGTGA
  hgvsp: ENSP00000436713.1:p.Ser183IlefsTer51
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.473_476delGTGA
  hgvsp: ENSP00000433404.1:p.Ser158IlefsTer?
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.620_623delGTGA
  hgvsp: ENSP00000434477.1:p.Ser207IlefsTer51
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser174IlefsTer51
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: ATCAC
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

11-47599077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599077
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599077
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*476G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.475G>A
  hgvsp: ENSP00000433404.1:p.Asp159Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.475G>A
  hgvsp: ENSP00000378703.2:p.Asp159Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-3000C>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.475G>A
  hgvsp: ENSP00000433340.1:p.Asp159Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.622G>A
  hgvsp: ENSP00000434477.1:p.Asp208Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.550G>A
  hgvsp: ENSP00000436713.1:p.Asp184Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.475G>A
  hgvsp: ENSP00000435651.1:p.Asp159Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.475G>A
  hgvsp: ENSP00000433653.1:p.Asp159Asn
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.523G>A
  hgvsp: ENSP00000415106.2:p.Asp175Asn
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp175Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

11-47599085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599085
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599085
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.467G>A
  hgvsp: ENSP00000433404.1:p.Arg156Gln
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.542G>A
  hgvsp: ENSP00000436713.1:p.Arg181Gln
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2992C>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.614G>A
  hgvsp: ENSP00000434477.1:p.Arg205Gln
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.467G>A
  hgvsp: ENSP00000378703.2:p.Arg156Gln
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.515G>A
  hgvsp: ENSP00000415106.2:p.Arg172Gln
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*468G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.467G>A
  hgvsp: ENSP00000433340.1:p.Arg156Gln
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.467G>A
  hgvsp: ENSP00000433653.1:p.Arg156Gln
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.467G>A
  hgvsp: ENSP00000435651.1:p.Arg156Gln
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg172Gln
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP

11-47599086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599086
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599086
    reference: chr 11
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.466C>T
  hgvsp: ENSP00000435651.1:p.Arg156Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.466C>T
  hgvsp: ENSP00000433404.1:p.Arg156Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2991G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.466C>T
  hgvsp: ENSP00000378703.2:p.Arg156Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.466C>T
  hgvsp: ENSP00000433653.1:p.Arg156Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.466C>T
  hgvsp: ENSP00000433340.1:p.Arg156Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.514C>T
  hgvsp: ENSP00000415106.2:p.Arg172Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.541C>T
  hgvsp: ENSP00000436713.1:p.Arg181Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*467C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.613C>T
  hgvsp: ENSP00000434477.1:p.Arg205Trp
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg172Trp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

11-47599086-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599086
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599086
    reference: chr 11
allele count: 9
allele frequency: 7.413020558777017e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.541C>G
  hgvsp: ENSP00000436713.1:p.Arg181Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.466C>G
  hgvsp: ENSP00000433340.1:p.Arg156Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.514C>G
  hgvsp: ENSP00000415106.2:p.Arg172Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.466C>G
  hgvsp: ENSP00000435651.1:p.Arg156Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.613C>G
  hgvsp: ENSP00000434477.1:p.Arg205Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*467C>G
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.466C>G
  hgvsp: ENSP00000433404.1:p.Arg156Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.466C>G
  hgvsp: ENSP00000433653.1:p.Arg156Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2991G>C
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.466C>G
  hgvsp: ENSP00000378703.2:p.Arg156Gly
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25986
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg172Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

11-47599105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599105
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599105
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.594G>A
  hgvsp: ENST00000525720.1:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.447G>A
  hgvsp: ENST00000395288.2:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2972C>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*448G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.447G>A
  hgvsp: ENST00000531067.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.447G>A
  hgvsp: ENST00000526005.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.447G>A
  hgvsp: ENST00000529946.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.495G>A
  hgvsp: ENST00000430070.2:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.447G>A
  hgvsp: ENST00000529499.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.522G>A
  hgvsp: ENST00000533290.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln165Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

11-47599109-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599109
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599109
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.443T>C
  hgvsp: ENSP00000433340.1:p.Leu148Pro
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.443T>C
  hgvsp: ENSP00000433404.1:p.Leu148Pro
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.518T>C
  hgvsp: ENSP00000433124.1:p.Leu173Pro
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2968A>G
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.491T>C
  hgvsp: ENSP00000415106.2:p.Leu164Pro
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*444T>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.443T>C
  hgvsp: ENSP00000378703.2:p.Leu148Pro
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.518T>C
  hgvsp: ENSP00000436713.1:p.Leu173Pro
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.443T>C
  hgvsp: ENSP00000435651.1:p.Leu148Pro
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.443T>C
  hgvsp: ENSP00000433653.1:p.Leu148Pro
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.590T>C
  hgvsp: ENSP00000434477.1:p.Leu197Pro
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu164Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

11-47599111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599111
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599111
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.441C>T
  hgvsp: ENST00000531067.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*442C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.516C>T
  hgvsp: ENST00000534239.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2966G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.441C>T
  hgvsp: ENST00000526005.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.489C>T
  hgvsp: ENST00000430070.2:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.441C>T
  hgvsp: ENST00000395288.2:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.441C>T
  hgvsp: ENST00000529499.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.588C>T
  hgvsp: ENST00000525720.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.516C>T
  hgvsp: ENST00000533290.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.441C>T
  hgvsp: ENST00000529946.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys163Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-47599128-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599128
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599128
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.499G>T
  hgvsp: ENSP00000433124.1:p.Val167Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.424G>T
  hgvsp: ENSP00000378703.2:p.Val142Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.424G>T
  hgvsp: ENSP00000433340.1:p.Val142Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.424G>T
  hgvsp: ENSP00000433653.1:p.Val142Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.424G>T
  hgvsp: ENSP00000435651.1:p.Val142Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.472G>T
  hgvsp: ENSP00000415106.2:p.Val158Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.424G>T
  hgvsp: ENSP00000433404.1:p.Val142Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*425G>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2949C>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.499G>T
  hgvsp: ENSP00000436713.1:p.Val167Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.571G>T
  hgvsp: ENSP00000434477.1:p.Val191Leu
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val158Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-47599129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599129
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599129
    reference: chr 11
allele count: 11
allele frequency: 9.060358460727464e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2948T>C
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.498A>G
  hgvsp: ENST00000533290.1:c.498A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.498A>G
  hgvsp: ENST00000534239.1:c.498A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.423A>G
  hgvsp: ENST00000395288.2:c.423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*424A>G
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.423A>G
  hgvsp: ENST00000531067.1:c.423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.570A>G
  hgvsp: ENST00000525720.1:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.423A>G
  hgvsp: ENST00000529946.1:c.423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.423A>G
  hgvsp: ENST00000529499.1:c.423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.471A>G
  hgvsp: ENST00000430070.2:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.423A>G
  hgvsp: ENST00000526005.1:c.423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr157Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

11-47599129-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599129
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599129
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.423A>C
  hgvsp: ENST00000395288.2:c.423A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.423A>C
  hgvsp: ENST00000531067.1:c.423A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.570A>C
  hgvsp: ENST00000525720.1:c.570A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.498A>C
  hgvsp: ENST00000533290.1:c.498A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.498A>C
  hgvsp: ENST00000534239.1:c.498A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.423A>C
  hgvsp: ENST00000529499.1:c.423A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.471A>C
  hgvsp: ENST00000430070.2:c.471A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2948T>G
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.423A>C
  hgvsp: ENST00000529946.1:c.423A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*424A>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.423A>C
  hgvsp: ENST00000526005.1:c.423A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr157Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-47599133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599133
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599133
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.467G>A
  hgvsp: ENSP00000415106.2:p.Arg156His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.566G>A
  hgvsp: ENSP00000434477.1:p.Arg189His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.494G>A
  hgvsp: ENSP00000436713.1:p.Arg165His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.419G>A
  hgvsp: ENSP00000433653.1:p.Arg140His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.419G>A
  hgvsp: ENSP00000435651.1:p.Arg140His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.494G>A
  hgvsp: ENSP00000433124.1:p.Arg165His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.419G>A
  hgvsp: ENSP00000433404.1:p.Arg140His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2944C>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.419G>A
  hgvsp: ENSP00000378703.2:p.Arg140His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.419G>A
  hgvsp: ENSP00000433340.1:p.Arg140His
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*420G>A
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg156His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

11-47599134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599134
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599134
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.418C>T
  hgvsp: ENSP00000435651.1:p.Arg140Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*419C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.418C>T
  hgvsp: ENSP00000433653.1:p.Arg140Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.418C>T
  hgvsp: ENSP00000433404.1:p.Arg140Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.418C>T
  hgvsp: ENSP00000378703.2:p.Arg140Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.493C>T
  hgvsp: ENSP00000433124.1:p.Arg165Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.466C>T
  hgvsp: ENSP00000415106.2:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2943G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.493C>T
  hgvsp: ENSP00000436713.1:p.Arg165Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.565C>T
  hgvsp: ENSP00000434477.1:p.Arg189Cys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.418C>T
  hgvsp: ENSP00000433340.1:p.Arg140Cys
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg156Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

11-47599169-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599169
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599169
    reference: chr 11
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.383C>A
  hgvsp: ENSP00000433340.1:p.Thr128Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.383C>A
  hgvsp: ENSP00000378703.2:p.Thr128Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2908G>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.383C>A
  hgvsp: ENSP00000433404.1:p.Thr128Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.458C>A
  hgvsp: ENSP00000433124.1:p.Thr153Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*384C>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.383C>A
  hgvsp: ENSP00000433653.1:p.Thr128Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.530C>A
  hgvsp: ENSP00000434477.1:p.Thr177Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.458C>A
  hgvsp: ENSP00000436713.1:p.Thr153Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.431C>A
  hgvsp: ENSP00000415106.2:p.Thr144Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.383C>A
  hgvsp: ENSP00000435651.1:p.Thr128Lys
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr144Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

11-47599176-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599176
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599176
    reference: chr 11
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.376C>A
  hgvsp: ENSP00000433404.1:p.Gln126Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.523C>A
  hgvsp: ENSP00000434477.1:p.Gln175Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.451C>A
  hgvsp: ENSP00000436713.1:p.Gln151Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2901G>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.376C>A
  hgvsp: ENSP00000433653.1:p.Gln126Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.451C>A
  hgvsp: ENSP00000433124.1:p.Gln151Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.376C>A
  hgvsp: ENSP00000435651.1:p.Gln126Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.376C>A
  hgvsp: ENSP00000433340.1:p.Gln126Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.376C>A
  hgvsp: ENSP00000378703.2:p.Gln126Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*377C>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.424C>A
  hgvsp: ENSP00000415106.2:p.Gln142Lys
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln142Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-47599180-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599180
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599178
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.370_371delAT
  hgvsp: ENSP00000435651.1:p.Met124ValfsTer8
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.370_371delAT
  hgvsp: ENSP00000433653.1:p.Met124ValfsTer8
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.370_371delAT
  hgvsp: ENSP00000433404.1:p.Met124ValfsTer8
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.517_518delAT
  hgvsp: ENSP00000434477.1:p.Met173ValfsTer8
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2896_816-2895delAT
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.370_371delAT
  hgvsp: ENSP00000378703.2:p.Met124ValfsTer8
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.445_446delAT
  hgvsp: ENSP00000433124.1:p.Met149ValfsTer8
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.418_419delAT
  hgvsp: ENSP00000415106.2:p.Met140ValfsTer8
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.370_371delAT
  hgvsp: ENSP00000433340.1:p.Met124ValfsTer8
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.445_446delAT
  hgvsp: ENSP00000436713.1:p.Met149ValfsTer8
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*371_*372delAT
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met140ValfsTer8
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CAT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

11-47599216-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599216
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599216
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.411T>A
  hgvsp: ENST00000534239.1:c.411T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.336T>A
  hgvsp: ENST00000529946.1:c.336T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.384T>A
  hgvsp: ENST00000430070.2:c.384T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*337T>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.336T>A
  hgvsp: ENST00000526005.1:c.336T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.336T>A
  hgvsp: ENST00000531067.1:c.336T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.336T>A
  hgvsp: ENST00000529499.1:c.336T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2861A>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.336T>A
  hgvsp: ENST00000395288.2:c.336T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.411T>A
  hgvsp: ENST00000533290.1:c.411T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.483T>A
  hgvsp: ENST00000525720.1:c.483T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala128Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

11-47599232-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599232
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599232
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.320C>G
  hgvsp: ENSP00000435651.1:p.Thr107Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.395C>G
  hgvsp: ENSP00000436713.1:p.Thr132Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.320C>G
  hgvsp: ENSP00000378703.2:p.Thr107Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2845G>C
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.320C>G
  hgvsp: ENSP00000433340.1:p.Thr107Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.320C>G
  hgvsp: ENSP00000433404.1:p.Thr107Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.395C>G
  hgvsp: ENSP00000433124.1:p.Thr132Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.320C>G
  hgvsp: ENSP00000433653.1:p.Thr107Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.368C>G
  hgvsp: ENSP00000415106.2:p.Thr123Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.467C>G
  hgvsp: ENSP00000434477.1:p.Thr156Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*321C>G
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr123Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

11-47599234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599234
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599234
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.366G>A
  hgvsp: ENST00000430070.2:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.318G>A
  hgvsp: ENST00000529946.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.318G>A
  hgvsp: ENST00000526005.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*319G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.318G>A
  hgvsp: ENST00000529499.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.318G>A
  hgvsp: ENST00000531067.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.318G>A
  hgvsp: ENST00000395288.2:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.393G>A
  hgvsp: ENST00000534239.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.465G>A
  hgvsp: ENST00000525720.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.393G>A
  hgvsp: ENST00000533290.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2843C>T
  variant of: http://identifiers.org/hgnc/7710
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly122Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-47599237-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599237
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599237
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.315T>C
  hgvsp: ENST00000395288.2:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.315T>C
  hgvsp: ENST00000529499.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.315T>C
  hgvsp: ENST00000531067.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.390T>C
  hgvsp: ENST00000533290.1:c.390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.462T>C
  hgvsp: ENST00000525720.1:c.462T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2840A>G
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.363T>C
  hgvsp: ENST00000430070.2:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.315T>C
  hgvsp: ENST00000526005.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*316T>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.390T>C
  hgvsp: ENST00000534239.1:c.390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.315T>C
  hgvsp: ENST00000529946.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His121His
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

11-47599237-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599237
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599236
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.389delA
  hgvsp: ENSP00000436713.1:p.His130LeufsTer4
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.314delA
  hgvsp: ENSP00000435651.1:p.His105LeufsTer4
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.362delA
  hgvsp: ENSP00000415106.2:p.His121LeufsTer4
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.314delA
  hgvsp: ENSP00000433653.1:p.His105LeufsTer4
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.314delA
  hgvsp: ENSP00000433340.1:p.His105LeufsTer4
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.461delA
  hgvsp: ENSP00000434477.1:p.His154LeufsTer4
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*315delA
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2839delT
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.314delA
  hgvsp: ENSP00000378703.2:p.His105LeufsTer4
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.314delA
  hgvsp: ENSP00000433404.1:p.His105LeufsTer4
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.389delA
  hgvsp: ENSP00000433124.1:p.His130LeufsTer4
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His121LeufsTer4
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AT
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

11-47599238-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599238
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599238
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.314A>T
  hgvsp: ENSP00000378703.2:p.His105Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.461A>T
  hgvsp: ENSP00000434477.1:p.His154Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2839T>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.389A>T
  hgvsp: ENSP00000436713.1:p.His130Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.389A>T
  hgvsp: ENSP00000433124.1:p.His130Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.314A>T
  hgvsp: ENSP00000433404.1:p.His105Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.314A>T
  hgvsp: ENSP00000435651.1:p.His105Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.314A>T
  hgvsp: ENSP00000433340.1:p.His105Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.362A>T
  hgvsp: ENSP00000415106.2:p.His121Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.314A>T
  hgvsp: ENSP00000433653.1:p.His105Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*315A>T
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His121Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

11-47599243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599243
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599243
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.357C>T
  hgvsp: ENST00000430070.2:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.309C>T
  hgvsp: ENST00000395288.2:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2834G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.309C>T
  hgvsp: ENST00000526005.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*310C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.456C>T
  hgvsp: ENST00000525720.1:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.309C>T
  hgvsp: ENST00000531067.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.384C>T
  hgvsp: ENST00000533290.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.309C>T
  hgvsp: ENST00000529499.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.384C>T
  hgvsp: ENST00000534239.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.309C>T
  hgvsp: ENST00000529946.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile119Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

11-47599250-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599250
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599250
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.350A>G
  hgvsp: ENSP00000415106.2:p.Asp117Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.377A>G
  hgvsp: ENSP00000433124.1:p.Asp126Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.302A>G
  hgvsp: ENSP00000433653.1:p.Asp101Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.302A>G
  hgvsp: ENSP00000435651.1:p.Asp101Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2827T>C
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.302A>G
  hgvsp: ENSP00000433340.1:p.Asp101Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.377A>G
  hgvsp: ENSP00000436713.1:p.Asp126Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.449A>G
  hgvsp: ENSP00000434477.1:p.Asp150Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.302A>G
  hgvsp: ENSP00000433404.1:p.Asp101Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.302A>G
  hgvsp: ENSP00000378703.2:p.Asp101Gly
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*303A>G
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp117Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

11-47599260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599260
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599260
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.292C>T
  hgvsp: ENSP00000378703.2:p.Leu98Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.439C>T
  hgvsp: ENSP00000434477.1:p.Leu147Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*293C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.292C>T
  hgvsp: ENSP00000435651.1:p.Leu98Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.292C>T
  hgvsp: ENSP00000433340.1:p.Leu98Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.340C>T
  hgvsp: ENSP00000415106.2:p.Leu114Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.367C>T
  hgvsp: ENSP00000433124.1:p.Leu123Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.367C>T
  hgvsp: ENSP00000436713.1:p.Leu123Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.292C>T
  hgvsp: ENSP00000433653.1:p.Leu98Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.292C>T
  hgvsp: ENSP00000433404.1:p.Leu98Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2817G>A
  variant of: http://identifiers.org/hgnc/7710
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu114Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/11-47599275-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599275
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599275
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2802C>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.352G>T
  hgvsp: ENSP00000433124.1:p.Glu118Ter
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*278G>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.352G>T
  hgvsp: ENSP00000436713.1:p.Glu118Ter
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.277G>T
  hgvsp: ENSP00000433653.1:p.Glu93Ter
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.277G>T
  hgvsp: ENSP00000433404.1:p.Glu93Ter
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.325G>T
  hgvsp: ENSP00000415106.2:p.Glu109Ter
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.277G>T
  hgvsp: ENSP00000378703.2:p.Glu93Ter
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.277G>T
  hgvsp: ENSP00000435651.1:p.Glu93Ter
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.277G>T
  hgvsp: ENSP00000433340.1:p.Glu93Ter
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.424G>T
  hgvsp: ENSP00000434477.1:p.Glu142Ter
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu109Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

11-47599281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599281
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599281
    reference: chr 11
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*272G>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.418G>A
  hgvsp: ENSP00000434477.1:p.Val140Ile
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.271G>A
  hgvsp: ENSP00000433404.1:p.Val91Ile
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.271G>A
  hgvsp: ENSP00000435651.1:p.Val91Ile
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.346G>A
  hgvsp: ENSP00000433124.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.346G>A
  hgvsp: ENSP00000436713.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.271G>A
  hgvsp: ENSP00000378703.2:p.Val91Ile
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.319G>A
  hgvsp: ENSP00000415106.2:p.Val107Ile
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.271G>A
  hgvsp: ENSP00000433653.1:p.Val91Ile
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.271G>A
  hgvsp: ENSP00000433340.1:p.Val91Ile
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2796C>T
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000231880
  ensembl protein: ENSP00000403688
  ensembl transcript: ENST00000450908
  gene symbol: KBTBD4
  hgvsc: ENST00000450908.1:c.3C>T
  hgvsp: ENST00000450908.1:c.3C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val107Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

11-47599299-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599299
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599299
    reference: chr 11
allele count: 9
allele frequency: 7.414486258485467e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2778C>G
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.328G>C
  hgvsp: ENSP00000436713.1:p.Val110Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.253G>C
  hgvsp: ENSP00000433404.1:p.Val85Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.253G>C
  hgvsp: ENSP00000433653.1:p.Val85Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.253G>C
  hgvsp: ENSP00000435651.1:p.Val85Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.301G>C
  hgvsp: ENSP00000415106.2:p.Val101Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.253G>C
  hgvsp: ENSP00000378703.2:p.Val85Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.253G>C
  hgvsp: ENSP00000433340.1:p.Val85Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*254G>C
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000231880
  ensembl protein: ENSP00000403688
  ensembl transcript: ENST00000450908
  gene symbol: KBTBD4
  hgvsc: ENST00000450908.1:c.21C>G
  hgvsp: ENSP00000403688.1:p.His7Gln
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.400G>C
  hgvsp: ENSP00000434477.1:p.Val134Leu
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.328G>C
  hgvsp: ENSP00000433124.1:p.Val110Leu
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Val101Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

11-47599302-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599302
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599302
    reference: chr 11
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2775G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.250C>T
  hgvsp: ENSP00000433340.1:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.250C>T
  hgvsp: ENSP00000378703.2:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*251C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.250C>T
  hgvsp: ENSP00000433404.1:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.250C>T
  hgvsp: ENSP00000435651.1:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.325C>T
  hgvsp: ENSP00000436713.1:p.Arg109Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.397C>T
  hgvsp: ENSP00000434477.1:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.298C>T
  hgvsp: ENSP00000415106.2:p.Arg100Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.325C>T
  hgvsp: ENSP00000433124.1:p.Arg109Trp
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000231880
  ensembl protein: ENSP00000403688
  ensembl transcript: ENST00000450908
  gene symbol: KBTBD4
  hgvsc: ENST00000450908.1:c.24G>A
  hgvsp: ENST00000450908.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.250C>T
  hgvsp: ENSP00000433653.1:p.Arg84Trp
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg100Trp
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

11-47599303-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599303
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599303
    reference: chr 11
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000231880
  ensembl protein: ENSP00000403688
  ensembl transcript: ENST00000450908
  gene symbol: KBTBD4
  hgvsc: ENST00000450908.1:c.25G>T
  hgvsp: ENSP00000403688.1:p.Val9Phe
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.249C>A
  hgvsp: ENSP00000433653.1:p.Asn83Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.249C>A
  hgvsp: ENSP00000433340.1:p.Asn83Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*250C>A
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.249C>A
  hgvsp: ENSP00000435651.1:p.Asn83Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.249C>A
  hgvsp: ENSP00000433404.1:p.Asn83Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.324C>A
  hgvsp: ENSP00000433124.1:p.Asn108Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.249C>A
  hgvsp: ENSP00000378703.2:p.Asn83Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.396C>A
  hgvsp: ENSP00000434477.1:p.Asn132Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.297C>A
  hgvsp: ENSP00000415106.2:p.Asn99Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.324C>A
  hgvsp: ENSP00000436713.1:p.Asn108Lys
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2774G>T
  variant of: http://identifiers.org/hgnc/7710
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn99Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-47599304-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599304
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599304
    reference: chr 11
allele count: 6
allele frequency: 4.942990838990312e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.323A>G
  hgvsp: ENSP00000433124.1:p.Asn108Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.248A>G
  hgvsp: ENSP00000378703.2:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.248A>G
  hgvsp: ENSP00000433404.1:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.248A>G
  hgvsp: ENSP00000435651.1:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.248A>G
  hgvsp: ENSP00000433340.1:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.248A>G
  hgvsp: ENSP00000433653.1:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.323A>G
  hgvsp: ENSP00000436713.1:p.Asn108Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000231880
  ensembl protein: ENSP00000403688
  ensembl transcript: ENST00000450908
  gene symbol: KBTBD4
  hgvsc: ENST00000450908.1:c.26T>C
  hgvsp: ENSP00000403688.1:p.Val9Ala
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.395A>G
  hgvsp: ENSP00000434477.1:p.Asn132Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2773T>C
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.296A>G
  hgvsp: ENSP00000415106.2:p.Asn99Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*249A>G
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn99Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

11-47599309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599309
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599309
    reference: chr 11
allele count: 23
allele frequency: 1.89493804376483e-4
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.318C>T
  hgvsp: ENST00000534239.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000231880
  ensembl protein: ENSP00000403688
  ensembl transcript: ENST00000450908
  gene symbol: KBTBD4
  hgvsc: ENST00000450908.1:c.31G>A
  hgvsp: ENSP00000403688.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.390C>T
  hgvsp: ENST00000525720.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.318C>T
  hgvsp: ENST00000533290.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*244C>T
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2768G>A
  variant of: http://identifiers.org/hgnc/7710
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.291C>T
  hgvsp: ENST00000430070.2:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.243C>T
  hgvsp: ENST00000529946.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.243C>T
  hgvsp: ENST00000529499.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.243C>T
  hgvsp: ENST00000395288.2:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.243C>T
  hgvsp: ENST00000526005.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.243C>T
  hgvsp: ENST00000531067.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly11Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

11-47599309-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599309
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599309
    reference: chr 11
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000436713
  ensembl transcript: ENST00000533290
  gene symbol: KBTBD4
  hgvsc: ENST00000533290.1:c.318C>G
  hgvsp: ENST00000533290.1:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433124
  ensembl transcript: ENST00000534239
  gene symbol: KBTBD4
  hgvsc: ENST00000534239.1:c.318C>G
  hgvsp: ENST00000534239.1:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433653
  ensembl transcript: ENST00000531067
  gene symbol: KBTBD4
  hgvsc: ENST00000531067.1:c.243C>G
  hgvsp: ENST00000531067.1:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433404
  ensembl transcript: ENST00000529499
  gene symbol: KBTBD4
  hgvsc: ENST00000529499.1:c.243C>G
  hgvsp: ENST00000529499.1:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000434477
  ensembl transcript: ENST00000525720
  gene symbol: KBTBD4
  hgvsc: ENST00000525720.1:c.390C>G
  hgvsp: ENST00000525720.1:c.390C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000231880
  ensembl protein: ENSP00000403688
  ensembl transcript: ENST00000450908
  gene symbol: KBTBD4
  hgvsc: ENST00000450908.1:c.31G>C
  hgvsp: ENSP00000403688.1:p.Gly11Arg
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000433340
  ensembl transcript: ENST00000526005
  gene symbol: KBTBD4
  hgvsc: ENST00000526005.1:c.243C>G
  hgvsp: ENST00000526005.1:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000415106
  ensembl transcript: ENST00000430070
  gene symbol: KBTBD4
  hgvsc: ENST00000430070.2:c.291C>G
  hgvsp: ENST00000430070.2:c.291C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435651
  ensembl transcript: ENST00000529946
  gene symbol: KBTBD4
  hgvsc: ENST00000529946.1:c.243C>G
  hgvsp: ENST00000529946.1:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.243C>G
  hgvsp: ENST00000395288.2:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000435850
  ensembl transcript: ENST00000530668
  gene symbol: KBTBD4
  hgvsc: ENST00000530668.1:c.*244C>G
  variant of: http://identifiers.org/hgnc/23761
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213619
  ensembl transcript: ENST00000533507
  gene symbol: NDUFS3
  hgvsc: ENST00000533507.1:n.816-2768G>C
  variant of: http://identifiers.org/hgnc/7710
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly11Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-47599321-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47599321
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47599321
    reference: chr 11
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123444
  ensembl protein: ENSP00000378703
  ensembl transcript: ENST00000395288
  gene symbol: KBTBD4
  hgvsc: ENST00000395288.2:c.231C>A
  hgvsp: ENSP00000378703.2:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/23761
canonical: true
consequence: missense
filter: PASS
hgvs: p.Asn93Lys
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37482
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3739
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1946
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

FS
type: SiteQuality
SIO_000300: 3.343e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.881e0

DP
type: SiteQuality
SIO_000300: 1.581758e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 569
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37482
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3515
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3739
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 660
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6790
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554678026180778e-5
allele num: 64322
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.881e0

DP
type: SiteQuality
SIO_000300: 1.581758e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 3.343e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10748
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64374
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.237e0

FS
type: SiteQuality
SIO_000300: 3.727e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.58384e6

VQSLOD
type: SiteQuality
SIO_000300: -8.695000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

MQ
type: SiteQuality
SIO_000300: 5.869e1

GenotypeQuality
all individuals: 3426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37619
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551494088807522e-5
allele num: 64454
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

FS
type: SiteQuality
SIO_000300: 1.411e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.586378e6

GenotypeQuality
all individuals: 355
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3760
bin: 9.75e1
variant carriers: 30

African
type: Population
allele count: 1
allele frequency: 9.767532721234616e-5
allele num: 10238
num of homozygotes: 0

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

Latino
type: Population
allele count: 16
allele frequency: 1.392030624673743e-3
allele num: 11494
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.013817888899216e-4
allele num: 64554
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

QD
type: SiteQuality
SIO_000300: 1.347e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 1.591455e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.824e0

GenotypeQuality
all individuals: 1346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
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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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542590935735662e-5
allele num: 64826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.921e1

DP
type: SiteQuality
SIO_000300: 1.599674e6

MQRankSum
type: SiteQuality
SIO_000300: -4.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.185e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.911e0

QD
type: SiteQuality
SIO_000300: 1.121e1

FS
type: SiteQuality
SIO_000300: 1.399e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.901e0

GenotypeQuality
all individuals: 660
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1970
bin: 7.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 3741
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2006
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.176470588235294e-3
allele num: 850
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: 4
allele frequency: 6.153278158939175e-5
allele num: 65006
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.522e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.272e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.137e0

DP
type: SiteQuality
SIO_000300: 1.608653e6

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6897
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 71
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 3741
bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.94325689856199e-4
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65006
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.647920055775041e-4
allele num: 8606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12592
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

QD
type: SiteQuality
SIO_000300: 1.272e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.137e0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

FS
type: SiteQuality
SIO_000300: 1.522e0

DP
type: SiteQuality
SIO_000300: 1.608653e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.84e-1

GenotypeQuality
all individuals: 662
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 122
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 78
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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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variant carriers: 0

GenotypeQuality
all individuals: 353
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GenotypeQuality
all individuals: 114
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.608436511106332e-5
allele num: 65098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12914
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.24e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.61145e6

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

GenotypeQuality
all individuals: 2014
bin: 7.75e1
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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.057449475647415e-5
allele num: 65414
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

QD
type: SiteQuality
SIO_000300: 1.354e1

MQ
type: SiteQuality
SIO_000300: 5.926e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

DP
type: SiteQuality
SIO_000300: 1.621863e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

GenotypeQuality
all individuals: 1985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 17
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13864
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
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: 7
allele frequency: 1.068376068376068e-4
allele num: 65520
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.625812e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.438e1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

GenotypeQuality
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bin: 8.75e1
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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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
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: 1.522858100082234e-5
allele num: 65666
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.1192e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.629765e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520172691617768e-5
allele num: 65782
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 2.045e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.367e1

GenotypeQuality
all individuals: 186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40778
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65918
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14814
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.93012931866435e-4
allele num: 10362
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.886e1

QD
type: SiteQuality
SIO_000300: 3.373e1

DP
type: SiteQuality
SIO_000300: 1.638918e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.88e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.267e-1

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1258
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7050
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40852
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65946
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14880
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.836e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

DP
type: SiteQuality
SIO_000300: 1.639972e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.026e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.419e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7031
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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: 6.709608158883521e-5
allele num: 14904
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65974
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.742e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.77e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 5.77e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

DP
type: SiteQuality
SIO_000300: 1.642262e6

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7092
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 662
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.025077895755816e-5
allele num: 66114
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15168
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

DP
type: SiteQuality
SIO_000300: 1.645208e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 662
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1031
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variant carriers: 0

GenotypeQuality
all individuals: 145
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variant carriers: 0

GenotypeQuality
all individuals: 7092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41141
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512538947877908e-5
allele num: 66114
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15168
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.645208e6

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 41392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020053152935492e-5
allele num: 66224
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15418
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: 11562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.527e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

DP
type: SiteQuality
SIO_000300: 1.649798e6

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41478
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.219989696032973e-4
allele num: 15528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.174e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

FS
type: SiteQuality
SIO_000300: 2.1e0

DP
type: SiteQuality
SIO_000300: 1.651539e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

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

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

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7159
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3722
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 41748
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15776
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506886471173262e-5
allele num: 66362
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

DP
type: SiteQuality
SIO_000300: 1.655665e6

FS
type: SiteQuality
SIO_000300: 1.8203e1

VQSLOD
type: SiteQuality
SIO_000300: -4.117e0

QD
type: SiteQuality
SIO_000300: 1.582e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7205
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 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

South Asian
type: Population
allele count: 1
allele frequency: 6.149305128520478e-5
allele num: 16262
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 1.663747e6

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 2.922e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.582e1

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.348e0

FS
type: SiteQuality
SIO_000300: 1.416e0

DP
type: SiteQuality
SIO_000300: 1.666643e6

QD
type: SiteQuality
SIO_000300: 1.294e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 9.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.74e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.667278e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.25e1

FS
type: SiteQuality
SIO_000300: 1.412e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

DP
type: SiteQuality
SIO_000300: 1.667723e6

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.719e0

MQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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

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: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.307e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
SIO_000300: 1.668348e6

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3721
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.449e1

DP
type: SiteQuality
SIO_000300: 1.668807e6

VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.374e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.921e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42582
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.416e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.286e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 1.669168e6

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

FS
type: SiteQuality
SIO_000300: 9.09e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.947e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.164e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.668916e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

DP
type: SiteQuality
SIO_000300: 1.669127e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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East Asian
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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DP
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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African
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Latino
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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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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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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South Asian
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQRankSum
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QD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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South Asian
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Latino
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MQ
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DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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African
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeDepth
all individuals: 187
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3729
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2045
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7243
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42614
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.672002e6

QD
type: SiteQuality
SIO_000300: 1.179e1

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.012e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeDepth
all individuals: 497
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7235
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

QD
type: SiteQuality
SIO_000300: 1.104e1

FS
type: SiteQuality
SIO_000300: 1.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

DP
type: SiteQuality
SIO_000300: 1.669487e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeDepth
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7240
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 665
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2047
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 66734
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

DP
type: SiteQuality
SIO_000300: 1.669477e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 9.67e0

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeDepth
all individuals: 2318
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42637
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3716
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7225
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.002e0

FS
type: SiteQuality
SIO_000300: 1.0071e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.669198e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.652e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

GenotypeDepth
all individuals: 55
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7224
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2023
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.747e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.115e0

FS
type: SiteQuality
SIO_000300: 2.468e0

VQSLOD
type: SiteQuality
SIO_000300: -3.275e-1

QD
type: SiteQuality
SIO_000300: 1.572e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.669286e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2021
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42639
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7222
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 9.75e1
variant carriers: 1

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.22e0

QD
type: SiteQuality
SIO_000300: 1.466e1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

FS
type: SiteQuality
SIO_000300: 9.662000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.027e1

DP
type: SiteQuality
SIO_000300: 1.669132e6

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
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variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2015
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

FS
type: SiteQuality
SIO_000300: 3.584e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.424e0

DP
type: SiteQuality
SIO_000300: 1.668464e6

GenotypeDepth
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 42656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 7199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2013
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.332e1

VQSLOD
type: SiteQuality
SIO_000300: -1.215e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

FS
type: SiteQuality
SIO_000300: 6.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

DP
type: SiteQuality
SIO_000300: 1.668209e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42644
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2011
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7200
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.668149e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

FS
type: SiteQuality
SIO_000300: 1.559e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.18e0

QD
type: SiteQuality
SIO_000300: 1.241e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 42636
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 663
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.018e1

FS
type: SiteQuality
SIO_000300: 5.373e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.02e-1

DP
type: SiteQuality
SIO_000300: 1.668161e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

QD
type: SiteQuality
SIO_000300: 1.27e1

GenotypeDepth
all individuals: 25941
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42636
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3714
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.018e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.02e-1

DP
type: SiteQuality
SIO_000300: 1.668161e6

FS
type: SiteQuality
SIO_000300: 5.373e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

QD
type: SiteQuality
SIO_000300: 1.27e1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

GenotypeDepth
all individuals: 187
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 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: 10406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 8.02e-1

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

DP
type: SiteQuality
SIO_000300: 1.668022e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

MQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

GenotypeDepth
all individuals: 1237
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 42671
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3712
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.526e1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.79e-2

DP
type: SiteQuality
SIO_000300: 1.668049e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.941e0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7192
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42681
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3712
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 663
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.146e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.667956e6

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 662
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 3.68e-1

ReadPosRankSum
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DP
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SIO_000300: 1.66782e6

MQ
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SIO_000300: 5.97e1

QD
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SIO_000300: 9.9e0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

East Asian
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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: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

African
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num of homozygotes: 0

Other
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num of homozygotes: 0

MQ
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SIO_000300: 5.98e1

MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.85e-1

InbreedingCoeff
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DP
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GenotypeDepth
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bin: 6.75e1
variant carriers: 0

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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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.942e1

FS
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SIO_000300: 3.832e0

MQRankSum
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ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.299e1

ReadPosRankSum
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SIO_000300: 8.9e-2

DP
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SIO_000300: 1.667381e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.348920863309352e-4
allele num: 66720
num of homozygotes: 0

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

Latino
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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

MQRankSum
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SIO_000300: 1.49e-1

ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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SIO_000300: 1.5e1

BaseQRankSum
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SIO_000300: 1.81e0

VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.36e-1

ClippingRankSum
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SIO_000300: -7.44e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

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

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

African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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Latino
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Other
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European (Non-Finnish)
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South Asian
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MQ
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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African
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Latino
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allele num: 11576
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European (Finnish)
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East Asian
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South Asian
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3721
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
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: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.271956390066626e-3
allele num: 16510
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.485e1

DP
type: SiteQuality
SIO_000300: 1.667733e6

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeDepth
all individuals: 17
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42580
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1979
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

DP
type: SiteQuality
SIO_000300: 1.667733e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.485e1