12-4791446-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791446
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791446
    reference: chr 12
allele count: 6
allele frequency: 4.947637503092273e-5
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.569C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139180
  ensembl transcript: ENST00000544675
  gene symbol: NDUFA9
  hgvsc: ENST00000544675.1:n.830C>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.876C>G
  hgvsp: ENST00000266544.5:c.876C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.153C>G
  hgvsp: ENST00000544741.2:c.153C>G(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46998
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro292Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-4791451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791451
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791451
    reference: chr 12
allele count: 2059
allele frequency: 1.698536569269605e-2
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.574C>T
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.881C>T
  hgvsp: ENSP00000266544.5:p.Pro294Leu
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.158C>T
  hgvsp: ENSP00000456318.2:p.Pro53Leu
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139180
  ensembl transcript: ENST00000544675
  gene symbol: NDUFA9
  hgvsc: ENST00000544675.1:n.835C>T
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 9.75e1
  variant carriers: 1865
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47364
  bin: 9.75e1
  variant carriers: 2036
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro294Leu
num of homozygotes: 22
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-4791452-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791452
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791452
    reference: chr 12
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139180
  ensembl transcript: ENST00000544675
  gene symbol: NDUFA9
  hgvsc: ENST00000544675.1:n.836G>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.159G>T
  hgvsp: ENST00000544741.2:c.159G>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.575G>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.882G>T
  hgvsp: ENST00000266544.5:c.882G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46999
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro294Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-4791457-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791457
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791457
    reference: chr 12
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.580T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.164T>C
  hgvsp: ENSP00000456318.2:p.Phe55Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.887T>C
  hgvsp: ENSP00000266544.5:p.Phe296Ser
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139180
  ensembl transcript: ENST00000544675
  gene symbol: NDUFA9
  hgvsc: ENST00000544675.1:n.841T>C
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe296Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-4791463-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791463
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791463
    reference: chr 12
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.893A>C
  hgvsp: ENSP00000266544.5:p.Tyr298Ser
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139180
  ensembl transcript: ENST00000544675
  gene symbol: NDUFA9
  hgvsc: ENST00000544675.1:n.847A>C
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.170A>C
  hgvsp: ENSP00000456318.2:p.Tyr57Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.586A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr298Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-4791463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791463
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791463
    reference: chr 12
allele count: 4
allele frequency: 3.305074942574323e-5
allele num: 121026
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.893A>G
  hgvsp: ENSP00000266544.5:p.Tyr298Cys
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139180
  ensembl transcript: ENST00000544675
  gene symbol: NDUFA9
  hgvsc: ENST00000544675.1:n.847A>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.170A>G
  hgvsp: ENSP00000456318.2:p.Tyr57Cys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.586A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 5707
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46999
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Tyr298Cys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

12-4791463-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791463
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791463
    reference: chr 12
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139180
  ensembl transcript: ENST00000544675
  gene symbol: NDUFA9
  hgvsc: ENST00000544675.1:n.847A>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.586A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.893A>T
  hgvsp: ENSP00000266544.5:p.Tyr298Phe
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.170A>T
  hgvsp: ENSP00000456318.2:p.Tyr57Phe
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1188
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr298Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-4791466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791466
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791466
    reference: chr 12
allele count: 11
allele frequency: 9.094968002248938e-5
allele num: 120946
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.173G>A
  hgvsp: ENSP00000456318.2:p.Arg58Gln
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.896G>A
  hgvsp: ENSP00000266544.5:p.Arg299Gln
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139180
  ensembl transcript: ENST00000544675
  gene symbol: NDUFA9
  hgvsc: ENST00000544675.1:n.850G>A
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47004
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg299Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

12-4791472-T-TAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791472
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791474
    reference: chr 12
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: TAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+9_589+10dupAG
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.173+9_173+10dupAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139180
  ensembl transcript: ENST00000544675
  gene symbol: NDUFA9
  hgvsc: ENST00000544675.1:n.856_857insAG
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.896+9_896+10dupAG
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
hgvs: c.896+9_896+10dupAG
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-4791473-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791473
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791473
    reference: chr 12
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.173+7A>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.896+7A>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139180
  ensembl transcript: ENST00000544675
  gene symbol: NDUFA9
  hgvsc: ENST00000544675.1:n.857A>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+7A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46994
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
hgvs: c.896+7A>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-4791474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791474
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791474
    reference: chr 12
allele count: 3
allele frequency: 2.484101748807631e-5
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+8G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.173+8G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.896+8G>A
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46995
  bin: 9.75e1
  variant carriers: 3
hgvs: c.896+8G>A
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

12-4791476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791476
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791476
    reference: chr 12
allele count: 4
allele frequency: 3.314660744472803e-5
allele num: 120676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+10G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.896+10G>A
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.173+10G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46999
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

12-4791481-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791481
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791481
    reference: chr 12
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.173+15C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+15C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.896+15C>G
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-4791483-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791483
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791483
    reference: chr 12
allele count: 10
allele frequency: 8.299719469481931e-5
allele num: 120486
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.173+17T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.896+17T>C
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+17T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46997
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-4791496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791496
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791496
    reference: chr 12
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+30C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.896+30C>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.173+30C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46994
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-4791508-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791508
    reference: chr 12
allele count: 1
allele frequency: 8.345852111500584e-6
allele num: 119820
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.896+42G>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.173+42G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+42G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
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genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46991
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-4791509-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791509
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791509
    reference: chr 12
allele count: 1
allele frequency: 8.359806052499582e-6
allele num: 119620
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.896+43C>A
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+43C>A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.173+43C>A
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46991
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 739
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-4791515-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4791515
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4791515
    reference: chr 12
allele count: 1
allele frequency: 8.367780697203488e-6
allele num: 119506
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.173+49A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+49A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.896+49A>G
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46992
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-4794209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794209
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794209
    reference: chr 12
allele count: 1
allele frequency: 9.157509157509158e-5
allele num: 10920
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-216G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2743G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-216G>A
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7724
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 52
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
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genotype quality: GenotypeQuality
  all individuals: 1129
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 666
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 735
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-4794222-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794222
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794222
    reference: chr 12
allele count: 2
allele frequency: 1.786671431123816e-4
allele num: 11194
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-203C>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.-30C>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2756C>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-203C>T
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20972
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 270
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-4794226-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794226
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794226
    reference: chr 12
allele count: 2
allele frequency: 1.713796058269066e-4
allele num: 11670
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-199A>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.-26A>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-199A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2760A>G
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21554
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16773
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-4794229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794229
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 11704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2763C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-196C>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-196C>T
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21936
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4281
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17585
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

12-4794234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794234
    reference: chr 12
allele count: 1
allele frequency: 8.141996417521577e-5
allele num: 12282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.-18G>A
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2768G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-191G>A
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-191G>A
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 560
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-4794235-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794235
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794235
    reference: chr 12
allele count: 2
allele frequency: 1.621533971136695e-4
allele num: 12334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-190G>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.-17G>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-190G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2769G>T
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23385
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

12-4794241-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794241
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794241
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 12642
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-184C>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-184C>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2775C>G
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24207
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20886
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

12-4794246-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794246
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794246
    reference: chr 12
allele count: 1
allele frequency: 7.733952049497293e-5
allele num: 12930
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-179G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-179G>A
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2780G>A
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-4794247-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794247
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794247
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 12968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2781A>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.-5A>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-178A>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-178A>G
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-4794276-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794276
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794274
    reference: chr 12
allele count: 1
allele frequency: 6.656017039403621e-5
allele num: 15024
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-146_174-145delCA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-146_897-145delCA
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2813_589+2814delCA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.28_29delCA
  hgvsp: ENSP00000439818.1:p.Gln10GlyfsTer27
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30910
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln10GlyfsTer27
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: TCA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-4794285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794285
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794285
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 16122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.34G>A
  hgvsp: ENSP00000439818.1:p.Glu12Lys
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-140G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2819G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-140G>A
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33478
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu12Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-4794294-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794294
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794295
    reference: chr 12
allele count: 2
allele frequency: 1.063377286261165e-4
allele num: 18808
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2832dupT
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-127dupT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-127dupT
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.47dupT
  hgvsp: ENSP00000439818.1:p.Asn21LysfsTer17
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10788
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn21LysfsTer17
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-4794295-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794295
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794295
    reference: chr 12
allele count: 1
allele frequency: 5.230125523012552e-5
allele num: 19120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2829T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-130T>C
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.44T>C
  hgvsp: ENSP00000439818.1:p.Ile15Thr
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-130T>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11534
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32160
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 504
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile15Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-4794299-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794299
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794299
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 20044
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-126C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.48C>G
  hgvsp: ENSP00000439818.1:p.Phe16Leu
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2833C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-126C>G
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15670
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 13311
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe16Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-4794299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794299
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794299
    reference: chr 12
allele count: 2
allele frequency: 9.978048293753742e-5
allele num: 20044
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-126C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2833C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.48C>T
  hgvsp: ENST00000540688.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-126C>T
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe16Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

12-4794301-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794301
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794302
    reference: chr 12
allele count: 484
allele frequency: 3.254000268925642e-2
allele num: 14874
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2847dupA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-112dupA
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.62dupA
  hgvsp: ENSP00000439818.1:p.Asn21LysfsTer17
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-112dupA
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 18441
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 22071
  bin: 7.5e0
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 1.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 24566
  bin: 2.5e0
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 15386
  bin: 7.5e0
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 6183
  bin: 2.25e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 9.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 6.25e1
  variant carriers: 23
hgvs: p.Asn21LysfsTer17
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-4794301-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794301
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794300
    reference: chr 12
allele count: 5246
allele frequency: 3.526959795616512e-1
allele num: 14874
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-112delA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-112delA
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.62delA
  hgvsp: ENSP00000439818.1:p.Asn21IlefsTer18
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2847delA
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 543
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.25e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 504
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 451
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 276
genotype depth: GenotypeDepth
  all individuals: 18441
  bin: 2.5e0
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 504
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.75e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 22071
  bin: 7.5e0
  variant carriers: 779
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 458
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 336
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 1.25e1
  variant carriers: 554
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 374
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.75e1
  variant carriers: 183
genotype quality: GenotypeQuality
  all individuals: 24566
  bin: 2.5e0
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.75e1
  variant carriers: 255
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 195
genotype quality: GenotypeQuality
  all individuals: 15386
  bin: 7.5e0
  variant carriers: 211
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 167
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 6.75e1
  variant carriers: 203
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.75e1
  variant carriers: 214
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 6.25e1
  variant carriers: 522
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.25e1
  variant carriers: 231
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.75e1
  variant carriers: 302
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 222
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 9.75e1
  variant carriers: 2267
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 341
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 254
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.25e1
  variant carriers: 323
hgvs: p.Asn21IlefsTer18
num of homozygotes: 1
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TA
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-4794301-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794301
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794299
    reference: chr 12
allele count: 1
allele frequency: 6.72314105149926e-5
allele num: 14874
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-113_174-112delAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-113_897-112delAA
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.61_62delAA
  hgvsp: ENSP00000439818.1:p.Asn21SerfsTer16
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2846_589+2847delAA
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22071
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24566
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15386
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn21SerfsTer16
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: TAA
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

12-4794302-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794302
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794302
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 2540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.51A>T
  hgvsp: ENSP00000439818.1:p.Leu17Phe
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-123A>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-123A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2836A>T
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21528
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25557
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13999
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4582
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu17Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-4794309-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794309
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794309
    reference: chr 12
allele count: 1
allele frequency: 2.996164908916587e-5
allele num: 33376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.58A>T
  hgvsp: ENSP00000439818.1:p.Lys20Ter
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-116A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-116A>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2843A>T
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5072
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17080
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys20Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-4794310-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794310
    reference: chr 12
allele count: 30
allele frequency: 8.970755337599426e-4
allele num: 33442
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-115A>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2844A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.59A>G
  hgvsp: ENSP00000439818.1:p.Lys20Arg
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-115A>G
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17857
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24343
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16783
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4896
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4752
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 17751
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys20Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-4794312-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794312
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794312
    reference: chr 12
allele count: 2
allele frequency: 5.904233335301411e-5
allele num: 33874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.61A>C
  hgvsp: ENSP00000439818.1:p.Asn21His
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-113A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2846A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-113A>C
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25301
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16055
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn21His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-4794317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794317
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794317
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 36338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-108G>A
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-108G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.66G>A
  hgvsp: ENST00000540688.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2851G>A
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28789
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln22Gln
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

12-4794330-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794330
    reference: chr 12
allele count: 1
allele frequency: 2.113271344040575e-5
allele num: 47320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.79T>C
  hgvsp: ENSP00000439818.1:p.Tyr27His
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-95T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2864T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-95T>C
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4736
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr27His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

12-4794335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794335
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794335
    reference: chr 12
allele count: 23
allele frequency: 4.404780144017159e-4
allele num: 52216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2869C>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-90C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.84C>T
  hgvsp: ENST00000540688.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-90C>T
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31328
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10238
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4764
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser28Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/12-4794343-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794343
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794343
    reference: chr 12
allele count: 1
allele frequency: 1.565190170605729e-5
allele num: 63890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2877C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-82C>A
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.92C>A
  hgvsp: ENSP00000439818.1:p.Ser31Tyr
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-82C>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27091
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser31Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

12-4794349-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794349
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794349
    reference: chr 12
allele count: 1
allele frequency: 1.413267757709376e-5
allele num: 70758
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-76G>C
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.98G>C
  hgvsp: ENSP00000439818.1:p.Cys33Ser
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2883G>C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-76G>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4766
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys33Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-4794350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794350
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794350
    reference: chr 12
allele count: 5
allele frequency: 6.947725314731957e-5
allele num: 71966
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-75C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2884C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-75C>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.99C>T
  hgvsp: ENST00000540688.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys33Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

12-4794351-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794351
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794351
    reference: chr 12
allele count: 40114
allele frequency: 4.172109664267588e-1
allele num: 96148
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-74A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2885A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-74A>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.100A>G
  hgvsp: ENSP00000439818.1:p.Ser34Gly
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.75e1
  variant carriers: 624
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 3.25e1
  variant carriers: 1304
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 2.75e1
  variant carriers: 3190
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 9753
  bin: 1.75e1
  variant carriers: 8647
genotype depth: GenotypeDepth
  all individuals: 15679
  bin: 2.25e1
  variant carriers: 6753
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 1.25e1
  variant carriers: 5888
genotype depth: GenotypeDepth
  all individuals: 11057
  bin: 7.5e0
  variant carriers: 1387
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 9.75e1
  variant carriers: 4182
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 163
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 458
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 654
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 1.75e1
  variant carriers: 193
genotype quality: GenotypeQuality
  all individuals: 27016
  bin: 9.75e1
  variant carriers: 26507
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 6.75e1
  variant carriers: 631
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 340
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.25e1
  variant carriers: 405
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.25e1
  variant carriers: 343
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.5e0
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.5e0
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 793
genotype quality: GenotypeQuality
  all individuals: 9864
  bin: 2.25e1
  variant carriers: 268
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 409
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 2.75e1
  variant carriers: 199
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 377
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.75e1
  variant carriers: 504
hgvs: p.Ser34Gly
num of homozygotes: 7491
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-4794357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794357
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794357
    reference: chr 12
allele count: 1
allele frequency: 9.967307232278128e-6
allele num: 100328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.106C>T
  hgvsp: ENSP00000439818.1:p.His36Tyr
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-68C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-68C>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2891C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His36Tyr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

12-4794358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794358
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794358
    reference: chr 12
allele count: 3
allele frequency: 2.971179558284639e-5
allele num: 100970
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-67A>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.107A>G
  hgvsp: ENSP00000439818.1:p.His36Arg
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-67A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2892A>G
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18900
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His36Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-4794359-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794359
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794359
    reference: chr 12
allele count: 1
allele frequency: 9.883766901241401e-6
allele num: 101176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2893T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.108T>C
  hgvsp: ENST00000540688.1:c.108T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-66T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-66T>C
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His36His
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum

12-4794366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794366
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794366
    reference: chr 12
allele count: 19
allele frequency: 1.817590449040503e-4
allele num: 104534
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-59G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2900G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.115G>A
  hgvsp: ENSP00000439818.1:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-59G>A
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23850
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8334
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Ala39Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-4794374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794374
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794374
    reference: chr 12
allele count: 2
allele frequency: 1.819240285256877e-5
allele num: 109936
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-51C>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2908C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.123C>T
  hgvsp: ENST00000540688.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-51C>T
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29159
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile41Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

12-4794378-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794378
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794378
    reference: chr 12
allele count: 12
allele frequency: 1.073748635444443e-4
allele num: 111758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2912G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.127G>C
  hgvsp: ENSP00000439818.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-47G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-47G>C
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30646
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly43Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-4794379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794379
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794379
    reference: chr 12
allele count: 1
allele frequency: 8.924268656183625e-6
allele num: 112054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.128G>A
  hgvsp: ENSP00000439818.1:p.Gly43Asp
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2913G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-46G>A
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-46G>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly43Asp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-4794384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794384
    reference: chr 12
allele count: 36
allele frequency: 3.138731952291275e-4
allele num: 114696
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-41G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2918G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.133G>A
  hgvsp: ENSP00000439818.1:p.Glu45Lys
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-41G>A
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32701
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu45Lys
num of homozygotes: 1
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-4794389-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794389
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794389
    reference: chr 12
allele count: 1
allele frequency: 8.590622476504648e-6
allele num: 116406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-36G>C
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2923G>C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-36G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.138G>C
  hgvsp: ENSP00000439818.1:p.Met46Ile
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5739
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met46Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

12-4794391-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794391
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794391
    reference: chr 12
allele count: 1
allele frequency: 8.538688798948034e-6
allele num: 117114
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-34T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.140T>A
  hgvsp: ENSP00000439818.1:p.Leu47His
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2925T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-34T>A
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu47His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-4794398-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794398
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794398
    reference: chr 12
allele count: 1
allele frequency: 8.415808254224735e-6
allele num: 118824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2932A>G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-27A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.147A>G
  hgvsp: ENST00000540688.1:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-27A>G
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr49Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-4794405-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794405
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794405
    reference: chr 12
allele count: 40
allele frequency: 3.335000833750208e-4
allele num: 119940
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-20A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2939A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.154A>G
  hgvsp: ENSP00000439818.1:p.Ile52Val
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-20A>G
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14804
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile52Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-4794411-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794411
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794411
    reference: chr 12
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-14A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.160A>G
  hgvsp: ENSP00000439818.1:p.Ile54Val
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-14A>G
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2945A>G
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile54Val
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP

12-4794414-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794414
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794414
    reference: chr 12
allele count: 2
allele frequency: 1.656753756689143e-5
allele num: 120718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2948T>G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.174-11T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.163T>G
  hgvsp: ENSP00000439818.1:p.Ser55Ala
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.897-11T>G
  variant of: http://identifiers.org/hgnc/7693
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser55Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-4794428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794428
    reference: chr 12
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.177G>A
  hgvsp: ENSP00000439818.1:p.Trp59Ter
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.900G>A
  hgvsp: ENSP00000266544.5:p.Trp300Ter
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2962G>A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.177G>A
  hgvsp: ENSP00000456318.2:p.Trp59Ter
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp300Ter
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

12-4794433-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794433
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794433
    reference: chr 12
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.182C>G
  hgvsp: ENSP00000439818.1:p.Ala61Gly
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.905C>G
  hgvsp: ENSP00000266544.5:p.Ala302Gly
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2967C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.182C>G
  hgvsp: ENSP00000456318.2:p.Ala61Gly
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala302Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-4794435-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794435
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794435
    reference: chr 12
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.184A>C
  hgvsp: ENST00000540688.1:c.184A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2969A>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.907A>C
  hgvsp: ENST00000266544.5:c.907A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.184A>C
  hgvsp: ENST00000544741.2:c.184A>C(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15478
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg303Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-4794452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794452
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794452
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2986C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.924C>T
  hgvsp: ENST00000266544.5:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.201C>T
  hgvsp: ENST00000540688.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.201C>T
  hgvsp: ENST00000544741.2:c.201C>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser308Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-4794454-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794454
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794454
    reference: chr 12
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.203C>G
  hgvsp: ENSP00000456318.2:p.Pro68Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2988C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.926C>G
  hgvsp: ENSP00000266544.5:p.Pro309Arg
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.203C>G
  hgvsp: ENSP00000439818.1:p.Pro68Arg
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro309Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-4794454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794454
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794454
    reference: chr 12
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.203C>T
  hgvsp: ENSP00000439818.1:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.203C>T
  hgvsp: ENSP00000456318.2:p.Pro68Leu
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+2988C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.926C>T
  hgvsp: ENSP00000266544.5:p.Pro309Leu
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro309Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-4794470-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794470
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794470
    reference: chr 12
allele count: 81
allele frequency: 6.675787495673101e-4
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+3004A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.219A>G
  hgvsp: ENSP00000439818.1:p.Ile73Met
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.219A>G
  hgvsp: ENSP00000456318.2:p.Ile73Met
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.942A>G
  hgvsp: ENSP00000266544.5:p.Ile314Met
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15636
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 36400
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 6302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 9.75e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile314Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-4794471-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794471
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794470
    reference: chr 12
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.221delC
  hgvsp: ENSP00000439818.1:p.Thr74LysfsTer13
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+3006delC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.221delC
  hgvsp: ENSP00000456318.2:p.Thr74LysfsTer30
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.944delC
  hgvsp: ENSP00000266544.5:p.Thr315LysfsTer13
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr315LysfsTer13
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: AC
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

12-4794489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794489
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794489
    reference: chr 12
allele count: 4
allele frequency: 3.299785513941594e-5
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.238C>T
  hgvsp: ENSP00000439818.1:p.Arg80Trp
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.961C>T
  hgvsp: ENSP00000266544.5:p.Arg321Trp
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+3023C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.238C>T
  hgvsp: ENSP00000456318.2:p.Arg80Trp
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg321Trp
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-4794490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794490
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794490
    reference: chr 12
allele count: 2
allele frequency: 1.649865535958819e-5
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.239G>A
  hgvsp: ENSP00000439818.1:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.239G>A
  hgvsp: ENSP00000456318.2:p.Arg80Gln
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.962G>A
  hgvsp: ENSP00000266544.5:p.Arg321Gln
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+3024G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg321Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-4794499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794499
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794499
    reference: chr 12
allele count: 4
allele frequency: 3.302237265747544e-5
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.240+8C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.240+8C>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+3033C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.963+8C>T
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45841
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
hgvs: c.963+8C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

12-4794507-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794507
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794507
    reference: chr 12
allele count: 2
allele frequency: 1.654177625593436e-5
allele num: 120906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.240+16G>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.240+16G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.963+16G>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+3041G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-4794512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794512
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794512
    reference: chr 12
allele count: 57
allele frequency: 4.719949653870359e-4
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.240+21C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.963+21C>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.240+21C>T
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+3046C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14946
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35061
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5970
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

12-4794513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4794513
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 4794513
    reference: chr 12
allele count: 6
allele frequency: 4.969849579219402e-5
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl transcript: ENST00000543979
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000543979.1:n.589+3047G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000439818
  ensembl transcript: ENST00000540688
  gene symbol: NDUFA9
  hgvsc: ENST00000540688.1:c.240+22G>A
  variant of: http://identifiers.org/hgnc/7693
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255639
  ensembl protein: ENSP00000456318
  ensembl transcript: ENST00000544741
  gene symbol: RP11-234B24.6
  hgvsc: ENST00000544741.2:c.240+22G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139180
  ensembl protein: ENSP00000266544
  ensembl transcript: ENST00000266544
  gene symbol: NDUFA9
  hgvsc: ENST00000266544.5:c.963+22G>A
  variant of: http://identifiers.org/hgnc/7693
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34772
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14894
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G

GenotypeQuality
all individuals: 949
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
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 (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.500525036752572e-5
allele num: 66662
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.489e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.35e-1

DP
type: SiteQuality
SIO_000300: 3.384856e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

GenotypeQuality
all individuals: 1274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 195
allele frequency: 2.948291502872694e-2
allele num: 6614
num of homozygotes: 3

Latino
type: Population
allele count: 125
allele frequency: 1.079820317899102e-2
allele num: 11576
num of homozygotes: 2

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

South Asian
type: Population
allele count: 128
allele frequency: 7.789678675754625e-3
allele num: 16432
num of homozygotes: 2

African
type: Population
allele count: 34
allele frequency: 3.268602191886176e-3
allele num: 10402
num of homozygotes: 0

Other
type: Population
allele count: 20
allele frequency: 2.207505518763797e-2
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1556
allele frequency: 2.335004051742249e-2
allele num: 66638
num of homozygotes: 15

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 1.188e0

DP
type: SiteQuality
SIO_000300: 3.627926e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.298e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

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

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

GenotypeQuality
all individuals: 1316
bin: 6.75e1
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: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 66636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -4.217e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.778e0

QD
type: SiteQuality
SIO_000300: 1.274e1

MQRankSum
type: SiteQuality
SIO_000300: -1.852e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.993e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.398167e6

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46999
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 661
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 8.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 3.396301e6

QD
type: SiteQuality
SIO_000300: 1.58e1

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46999
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1306
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
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: 16272
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: 10402
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 3.39362e6

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.384e1

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e0

GenotypeQuality
all individuals: 1188
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 948
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
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: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e0

QD
type: SiteQuality
SIO_000300: 1.384e1

FS
type: SiteQuality
SIO_000300: 5.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

DP
type: SiteQuality
SIO_000300: 3.39362e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 2.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 904
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.384e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

DP
type: SiteQuality
SIO_000300: 3.39362e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e0

GenotypeQuality
all individuals: 947
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
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: 11
allele frequency: 6.780078895463511e-4
allele num: 16224
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 5.512e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

QD
type: SiteQuality
SIO_000300: 1.191e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 3.39103e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
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GenotypeQuality
all individuals: 1190
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
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: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 2.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

DP
type: SiteQuality
SIO_000300: 3.386572e6

QD
type: SiteQuality
SIO_000300: 1.726e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
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: 902
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

FS
type: SiteQuality
SIO_000300: 9.23e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 3.385695e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507076109491902e-5
allele num: 66562
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

FS
type: SiteQuality
SIO_000300: 1.616e0

DP
type: SiteQuality
SIO_000300: 3.384324e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.922e0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

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: 66542
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.499375156210947e-4
allele num: 16004
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.382097e6

QD
type: SiteQuality
SIO_000300: 1.225e1

FS
type: SiteQuality
SIO_000300: 2.193e0

MQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.121e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
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: 15922
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VQSLOD
type: SiteQuality
SIO_000300: -1.229e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 8.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.848e0

QD
type: SiteQuality
SIO_000300: 1.852e1

DP
type: SiteQuality
SIO_000300: 3.376035e6

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: 11568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 10
allele frequency: 6.300403225806451e-4
allele num: 15872
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 7.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.6e1

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.009e0

DP
type: SiteQuality
SIO_000300: 3.373638e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.052e0

DP
type: SiteQuality
SIO_000300: 3.359694e6

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

QD
type: SiteQuality
SIO_000300: 1.605e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 3.352783e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.03e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.541933795629989e-5
allele num: 15286
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66252
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.439e1

MQRankSum
type: SiteQuality
SIO_000300: -1.631e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.721e0

DP
type: SiteQuality
SIO_000300: 3.352264e6

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 6.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509206157561123e-5
allele num: 66260
num of homozygotes: 0

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

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15180
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.351185e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

FS
type: SiteQuality
SIO_000300: 3.33e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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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

African
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allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 290
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4092
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.799856011519078e-4
allele num: 5556
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 196
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 202
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European (Finnish)
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allele frequency: 0.0e0
allele num: 12
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East Asian
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allele num: 298
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African
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allele count: 2
allele frequency: 2.958579881656805e-3
allele num: 676
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5720
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4162
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.813e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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MQ
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BaseQRankSum
type: SiteQuality
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MQRankSum
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DP
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QD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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South Asian
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allele count: 0
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allele num: 5994
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 206
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 2.932551319648094e-3
allele num: 682
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East Asian
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VQSLOD
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MQ
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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QD
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FS
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.38e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.29e-2

QD
type: SiteQuality
SIO_000300: 1.319e1

DP
type: SiteQuality
SIO_000300: 1.79871e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 720
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.226179875333927e-4
allele num: 4492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 8.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.093e0

DP
type: SiteQuality
SIO_000300: 1.95074e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.24e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.452359750667854e-4
allele num: 4492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 3.245e0

VQSLOD
type: SiteQuality
SIO_000300: -1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.19e-2

DP
type: SiteQuality
SIO_000300: 1.9715e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.06741e5

VQSLOD
type: SiteQuality
SIO_000300: -1.223e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 110
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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: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.457725947521866e-4
allele num: 6860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.18e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.223e0

QD
type: SiteQuality
SIO_000300: 9.67e0

VQSLOD
type: SiteQuality
SIO_000300: -1.801e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.61e-1

DP
type: SiteQuality
SIO_000300: 2.18261e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3443
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GenotypeQuality
all individuals: 230
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 2.21202e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.814e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.160000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.114e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.78699070764832e-4
allele num: 5596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.863e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 3.68e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.905e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.356e0

DP
type: SiteQuality
SIO_000300: 2.86278e5

QD
type: SiteQuality
SIO_000300: 1.212e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1112
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.157e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-2

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.42e0

DP
type: SiteQuality
SIO_000300: 3.23175e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.487562189054726e-4
allele num: 8040
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e0

MQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.279999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.567e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 3.89463e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1570
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 394
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 566
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South Asian
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allele frequency: 1.261670451678022e-4
allele num: 7926
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.11e-2

QD
type: SiteQuality
SIO_000300: 1.511e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.188e0

DP
type: SiteQuality
SIO_000300: 3.95031e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 464
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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allele frequency: 0.0e0
allele num: 626
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Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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African
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.27842333105491e-4
allele num: 8778
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European (Finnish)
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allele num: 294
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 46

GenotypeQuality
all individuals: 301
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GenotypeQuality
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variant carriers: 39

Other
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allele count: 1
allele frequency: 6.756756756756757e-3
allele num: 148
num of homozygotes: 0

Latino
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allele frequency: 3.529411764705882e-2
allele num: 340
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European (Finnish)
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allele frequency: 1.204819277108434e-2
allele num: 166
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East Asian
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allele frequency: 3.409090909090909e-2
allele num: 440
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African
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allele frequency: 3.627760252365931e-2
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num of homozygotes: 0

South Asian
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allele count: 247
allele frequency: 3.867835891011588e-2
allele num: 6386
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European (Non-Finnish)
type: Population
allele count: 161
allele frequency: 2.628142344107084e-2
allele num: 6126
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-2

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 7.59345e5

QD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.612e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

GenotypeQuality
all individuals: 6183
bin: 2.25e1
variant carriers: 205

GenotypeQuality
all individuals: 208
bin: 8.25e1
variant carriers: 186

GenotypeQuality
all individuals: 247
bin: 7.25e1
variant carriers: 189

African
type: Population
allele count: 327
allele frequency: 2.578864353312303e-1
allele num: 1268
num of homozygotes: 1

East Asian
type: Population
allele count: 128
allele frequency: 2.909090909090909e-1
allele num: 440
num of homozygotes: 0

South Asian
type: Population
allele count: 2669
allele frequency: 4.179455057939242e-1
allele num: 6386
num of homozygotes: 0

Other
type: Population
allele count: 54
allele frequency: 3.648648648648649e-1
allele num: 148
num of homozygotes: 0

Latino
type: Population
allele count: 105
allele frequency: 3.088235294117647e-1
allele num: 340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 41
allele frequency: 2.469879518072289e-1
allele num: 166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1922
allele frequency: 3.137446947437153e-1
allele num: 6126
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.59345e5

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.612e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-2

QD
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 438
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 534
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632386549134835e-4
allele num: 6126
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-2

QD
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 7.59345e5

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.612e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
all individuals: 16
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 3.47975e5

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.794e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 5.96e0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1502
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.352941176470588e-4
allele num: 1360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.28e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.186e0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 7.99283e5

GenotypeQuality
all individuals: 256
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1364
num of homozygotes: 0

African
type: Population
allele count: 30
allele frequency: 9.523809523809525e-3
allele num: 3150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.332e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

DP
type: SiteQuality
SIO_000300: 8.03513e5

QD
type: SiteQuality
SIO_000300: 1.609e1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
all individuals: 19913
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.510416666666666e-4
allele num: 1536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.121327651939897e-4
allele num: 8918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1484
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.15102e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 7.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.11e-2

QD
type: SiteQuality
SIO_000300: 1.104e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.87e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

QD
type: SiteQuality
SIO_000300: 1.605e1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.6074e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.585e0

GenotypeQuality
all individuals: 2754
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.079634464751958e-5
allele num: 24512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.141e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.493e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

DP
type: SiteQuality
SIO_000300: 9.9418e5

QD
type: SiteQuality
SIO_000300: 4.46e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
SIO_000300: -2.448e0

FS
type: SiteQuality
SIO_000300: 4.337e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 1573
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 2.842062525375558e-3
allele num: 4926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 2.212389380530973e-3
allele num: 3164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.652034183039953e-5
allele num: 27382
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.464e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 1.040795e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

GenotypeQuality
all individuals: 596
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4757
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.97827258035554e-5
allele num: 11138
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.444e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.044e0

DP
type: SiteQuality
SIO_000300: 1.13218e6

QD
type: SiteQuality
SIO_000300: 6.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 434
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11682
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.550387596899225e-4
allele num: 6450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.187765e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4772
bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.291989664082687e-4
allele num: 38700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 1.19995e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.688e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 758
bin: 5.75e1
variant carriers: 474

GenotypeQuality
all individuals: 1217
bin: 5.25e1
variant carriers: 834

GenotypeQuality
all individuals: 9537
bin: 6.25e1
variant carriers: 704

European (Non-Finnish)
type: Population
allele count: 18745
allele frequency: 3.657560975609756e-1
allele num: 51250
num of homozygotes: 2699

African
type: Population
allele count: 2611
allele frequency: 3.174854085603113e-1
allele num: 8224
num of homozygotes: 343

South Asian
type: Population
allele count: 8850
allele frequency: 5.860150973381009e-1
allele num: 15102
num of homozygotes: 2536

European (Finnish)
type: Population
allele count: 2074
allele frequency: 3.830809013668268e-1
allele num: 5414
num of homozygotes: 315

Latino
type: Population
allele count: 3841
allele frequency: 4.558509375741752e-1
allele num: 8426
num of homozygotes: 681

Other
type: Population
allele count: 329
allele frequency: 4.295039164490861e-1
allele num: 766
num of homozygotes: 61

East Asian
type: Population
allele count: 3664
allele frequency: 5.259833476887741e-1
allele num: 6966
num of homozygotes: 856

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 8.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.24e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.443e0

DP
type: SiteQuality
SIO_000300: 1.717406e6

QD
type: SiteQuality
SIO_000300: 1.737e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

GenotypeQuality
all individuals: 3522
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.860326673363843e-5
allele num: 53754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15268
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.343e0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.023e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

DP
type: SiteQuality
SIO_000300: 1.309597e6

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.540370835487922e-5
allele num: 54148
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.229e0

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

DP
type: SiteQuality
SIO_000300: 1.315707e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
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variant carriers: 0

GenotypeQuality
all individuals: 2544
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9210
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15306
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.97e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.995e0

DP
type: SiteQuality
SIO_000300: 1.320979e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

GenotypeQuality
all individuals: 26656
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 315
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variant carriers: 0

GenotypeQuality
all individuals: 4405
bin: 6.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.239815798795608e-3
allele num: 5646
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.296512381693245e-4
allele num: 15426
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.377617653681603e-4
allele num: 8882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.237886397396902e-4
allele num: 56548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: -2.308e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

FS
type: SiteQuality
SIO_000300: 9.118e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.661e0

DP
type: SiteQuality
SIO_000300: 1.368908e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

QD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

GenotypeQuality
all individuals: 32951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
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variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.278118609406953e-4
allele num: 15648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 1.435395e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.064e1

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

GenotypeQuality
all individuals: 1466
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variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10478
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.799973818562639e-4
allele num: 61112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.624431448992852e-4
allele num: 6156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.369e1

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

DP
type: SiteQuality
SIO_000300: 1.466252e6

GenotypeQuality
all individuals: 33991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
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variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.525623928367309e-5
allele num: 10498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.245e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

FS
type: SiteQuality
SIO_000300: 8.128e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

DP
type: SiteQuality
SIO_000300: 1.472414e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.299e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 38347
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 5
allele frequency: 5.841121495327103e-3
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 1.763668430335097e-3
allele num: 15876
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.765535646206634e-5
allele num: 62952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

DP
type: SiteQuality
SIO_000300: 1.51919e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.138e0

QD
type: SiteQuality
SIO_000300: 1.193e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562597662353897e-5
allele num: 63996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 9.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

DP
type: SiteQuality
SIO_000300: 1.54588e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 2.896e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64438
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8356
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African
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16016
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Latino
type: Population
allele count: 1
allele frequency: 9.023641941887746e-5
allele num: 11082
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.113e0

DP
type: SiteQuality
SIO_000300: 1.557103e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 361
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GenotypeQuality
all individuals: 1532
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
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Other
type: Population
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African
type: Population
allele count: 1
allele frequency: 9.893153937475267e-5
allele num: 10108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.584923e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 44684
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.906227283741216e-4
allele num: 66032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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allele num: 8588
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Latino
type: Population
allele count: 1
allele frequency: 8.778089887640449e-5
allele num: 11392
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.603674e6

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

GenotypeQuality
all individuals: 362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.524390243902439e-4
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e0

QD
type: SiteQuality
SIO_000300: 1.563e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 6.788e0

MQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

DP
type: SiteQuality
SIO_000300: 1.609164e6

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

GenotypeQuality
all individuals: 3114
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.612607e6

QD
type: SiteQuality
SIO_000300: 1.193e1

FS
type: SiteQuality
SIO_000300: 3.522e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.56e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
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GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.193e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.542e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.621202e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.483e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 8.25e1
variant carriers: 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: 904
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.62222e6

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

FS
type: SiteQuality
SIO_000300: 6.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 904
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.87e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.622831e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.339e1

GenotypeQuality
all individuals: 362
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1650
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.913e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.94e0

FS
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 1.258e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.123e0

VQSLOD
type: SiteQuality
SIO_000300: -2.073e-1

DP
type: SiteQuality
SIO_000300: 1.62413e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

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

GenotypeQuality
all individuals: 362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

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

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: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.555e0

DP
type: SiteQuality
SIO_000300: 1.624235e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1650
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.555e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.624235e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
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: 16502
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: 76
allele frequency: 7.304882737408689e-3
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.324511330219685e-4
allele num: 11562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.91e-2

QD
type: SiteQuality
SIO_000300: 1.457e1

DP
type: SiteQuality
SIO_000300: 1.629162e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.746e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

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

African
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allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

Latino
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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: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216101179618144e-4
allele num: 16446
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.324e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.36e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.56e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

Other
type: Population
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allele num: 904
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South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 3.256e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.626416840157298e-4
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.618005e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 8.300000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.322e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

FS
type: SiteQuality
SIO_000300: 3.105e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1498
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004807692307692e-5
allele num: 66560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.922e0

DP
type: SiteQuality
SIO_000300: 1.604588e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-2

QD
type: SiteQuality
SIO_000300: 8.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.896e0

GenotypeQuality
all individuals: 1479
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3163
bin: 9.75e1
variant carriers: 57

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.89073039121218e-4
allele num: 10378
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 52
allele frequency: 4.512322110378341e-3
allele num: 11524
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.0e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 1.597948e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.294e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

GenotypeQuality
all individuals: 476
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.852995676343422e-4
allele num: 16190
num of homozygotes: 0

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

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

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