20-33974156-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33974156
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33974156
    reference: chr 20
allele count: 1
allele frequency: 8.120838070488874e-5
allele num: 12314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*184-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.130-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.172-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.130-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.130-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.143-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.130-4328C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.130-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+25587C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.207-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+7739C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.*31C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.127-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.130-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.130-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.130-1709C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.130-2220C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-72-4328C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+7739C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+7739C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.130-2220C>G
  variant of: http://identifiers.org/hgnc/15891
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

20-33974163-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33974163
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33974163
    reference: chr 20
allele count: 6066
allele frequency: 4.93491701919948e-1
allele num: 12292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+7732A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+7732A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.130-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.130-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.130-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.130-1716A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.*24A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.130-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.130-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.143-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+7732A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+25580A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.130-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-72-4335A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.130-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*184-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.207-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.127-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.130-2227A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.172-2227A>T
  variant of: http://identifiers.org/hgnc/15891
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1548
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-33974207-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33974207
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33974207
    reference: chr 20
allele count: 32
allele frequency: 2.692696061932009e-3
allele num: 11884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.130-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.207-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.143-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.130-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+7688T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.130-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*184-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.130-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-72-4379T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.130-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+7688T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.130-1760T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.130-15T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.130-4379T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.130-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+25536T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+7688T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.130-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.130-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.172-2271T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.127-2271T>C
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/20-33974212-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33974212
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33974212
    reference: chr 20
allele count: 1
allele frequency: 8.448800270361608e-5
allele num: 11836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.130-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.130-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.130-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.130-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.130-20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+25531T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+7683T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.130-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.130-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.207-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.172-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+7683T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.127-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.130-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.143-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*184-2276T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+7683T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-72-4384T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.130-1765T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.130-4384T>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

20-33974219-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33974219
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33974218
    reference: chr 20
allele count: 1
allele frequency: 8.481764206955047e-5
allele num: 11790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.130-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+7675delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.130-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.130-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.130-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+7675delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.130-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.207-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.130-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.130-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*184-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+25523delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.172-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.143-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+7675delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.130-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.127-2284delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.130-1773delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.130-28delA
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-72-4392delA
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: AT
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

20-33974223-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33974223
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33974223
    reference: chr 20
allele count: 1
allele frequency: 8.520790729379687e-5
allele num: 11736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.130-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+25520A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.143-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.130-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+7672A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*184-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.172-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.130-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.207-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.130-4395A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.130-31A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+7672A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.130-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.130-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.130-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.127-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.130-1776A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+7672A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-72-4395A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.130-2287A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.130-2287A>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

20-33974225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33974225
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33974225
    reference: chr 20
allele count: 1
allele frequency: 8.552856654122477e-5
allele num: 11692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.130-2289C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+7670C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.130-33C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.130-2289C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.130-2289C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+7670C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*184-2289C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.130-1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.130-2289C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+7670C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.130-2289C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+25518C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.130-2289C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.130-2289C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-72-4397C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.207-2289C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.143-2289C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.172-2289C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.130-4397C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.127-2289C>T
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

20-33974237-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33974237
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33974237
    reference: chr 20
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+25506A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.130-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.130-4409A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.130-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.130-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.130-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+7658A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.130-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.130-1790A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+7658A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.127-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.130-45A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+7658A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.172-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.143-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.130-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.207-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.130-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.130-2301A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*184-2301A>T
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

20-33980001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33980001
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33980001
    reference: chr 20
allele count: 2
allele frequency: 1.243471773190749e-4
allele num: 16084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+19742G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+1894G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.171+38G>A
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

20-33980017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33980017
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33980017
    reference: chr 20
allele count: 8
allele frequency: 4.954787563483216e-4
allele num: 16146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.171+22A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+19726A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+1878A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+1878A>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

20-33980030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33980030
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33980030
    reference: chr 20
allele count: 1
allele frequency: 6.15839389087326e-5
allele num: 16238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+19713C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+1865C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.171+9C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+1865C>T
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

20-33980077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33980077
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33980077
    reference: chr 20
allele count: 2
allele frequency: 1.218472036066772e-4
allele num: 16414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.133C>T
  hgvsp: ENSP00000398531.1:p.Pro45Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+19666C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+1818C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+1818C>T
  variant of: http://identifiers.org/hgnc/15891
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro45Ser
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

20-33980092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33980092
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33980092
    reference: chr 20
allele count: 1
allele frequency: 6.104260774020266e-5
allele num: 16382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+19651C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+1803C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+1803C>T
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

20-33980099-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33980099
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33980099
    reference: chr 20
allele count: 1
allele frequency: 6.112469437652811e-5
allele num: 16360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+19644G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+1796G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.130-19G>C
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

20-33980112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33980112
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33980112
    reference: chr 20
allele count: 4
allele frequency: 2.450079627587897e-4
allele num: 16326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+19631G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.130-32G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+1783G>A
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

20-33980116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33980116
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33980116
    reference: chr 20
allele count: 15
allele frequency: 9.202453987730061e-4
allele num: 16300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+19627G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.130-36G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+1779G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+1779G>A
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

20-33980117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33980117
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33980117
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 16294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.130-37C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+19626C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+1778C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+1778C>T
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/20-33980121-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33980121
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33980121
    reference: chr 20
allele count: 2
allele frequency: 1.226692836113837e-4
allele num: 16304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+19622G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.130-41G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+1774G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+1774G>T
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-33980121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33980121
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33980121
    reference: chr 20
allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+19622G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.130-41G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+1774G>A
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

20-33981845-C-CACAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981845
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981849
    reference: chr 20
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: CACAT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17894_-2+17897dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+46_*183+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+46_-73+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+46_142+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+46_70+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+46_126+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+46_124+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+46_129+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+46_206+49dupATGT
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

20-33981847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981847
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981847
    reference: chr 20
allele count: 25
allele frequency: 2.062331919948524e-4
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17896G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+48G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+48G>A
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

20-33981848-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981848
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981848
    reference: chr 20
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17895T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+47T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+47T>C
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

20-33981849-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981849
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981849
    reference: chr 20
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17894A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+46A>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+46A>T
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-33981849-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981849
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981849
    reference: chr 20
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17894A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+46A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+46A>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

20-33981852-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981852
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981852
    reference: chr 20
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17891T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+43T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+43T>C
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

20-33981862-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981862
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981862
    reference: chr 20
allele count: 5
allele frequency: 4.123235255310727e-5
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17881A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+33A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+33A>C
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

20-33981867-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981867
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981867
    reference: chr 20
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17876A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+28A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+28A>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/20-33981875-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981875
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981875
    reference: chr 20
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17868T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+20T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+20T>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

20-33981879-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981879
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981879
    reference: chr 20
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17864C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+16C>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

20-33981889-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981889
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981889
    reference: chr 20
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17854A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+6A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+6A>C
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.129+6A>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

20-33981891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981891
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981891
    reference: chr 20
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+4A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+4A>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.129+4A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-33981893-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981893
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981893
    reference: chr 20
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*183+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.206+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-73+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17850T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.126+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.70+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.142+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.129+2T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.124+2T>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.129+2T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

20-33981896-T-TGGCACTTAGCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981896
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981908
    reference: chr 20
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: TGGCACTTAGCCA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  variant of: http://identifiers.org/hgnc/15891
canonical: false
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro23_Gly24insGlyTerValPro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

20-33981897-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981897
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981897
    reference: chr 20
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.127C>G
  hgvsp: ENSP00000416246.1:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.127C>G
  hgvsp: ENSP00000335364.6:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.127C>G
  hgvsp: ENSP00000363505.2:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.127C>G
  hgvsp: ENSP00000363506.5:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.127C>G
  hgvsp: ENSP00000352161.2:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17846C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.127C>G
  hgvsp: ENSP00000420584.1:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.127C>G
  hgvsp: ENSP00000386064.2:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.127C>G
  hgvsp: ENSP00000363501.2:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.68C>G
  hgvsp: ENSP00000363497.5:p.Pro23Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.127C>G
  hgvsp: ENSP00000398531.1:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.127C>G
  hgvsp: ENSP00000380686.1:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.127C>G
  hgvsp: ENSP00000445059.1:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.140C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*181C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.127C>G
  hgvsp: ENSP00000399713.1:p.Gln43Glu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.122C>G
  hgvsp: ENSP00000411024.1:p.Gln42Glu
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln43Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

20-33981903-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981903
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981903
    reference: chr 20
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.121A>C
  hgvsp: ENSP00000399713.1:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.121A>C
  hgvsp: ENSP00000386064.2:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.121A>C
  hgvsp: ENSP00000363506.5:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.198A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.121A>C
  hgvsp: ENSP00000363505.2:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.121A>C
  hgvsp: ENSP00000445059.1:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.121A>C
  hgvsp: ENSP00000420584.1:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-81A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*175A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.121A>C
  hgvsp: ENSP00000363501.2:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.121A>C
  hgvsp: ENSP00000352161.2:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.62A>C
  hgvsp: ENSP00000363497.5:p.His21Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.121A>C
  hgvsp: ENSP00000398531.1:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.121A>C
  hgvsp: ENSP00000380686.1:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.134A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.121A>C
  hgvsp: ENSP00000416246.1:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.116A>C
  hgvsp: ENSP00000411024.1:p.Thr40Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.118A>C
  hgvsp: ENSP00000390334.1:p.Thr40Pro
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.121A>C
  hgvsp: ENSP00000380685.2:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr41Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

20-33981905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981905
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981905
    reference: chr 20
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.119G>A
  hgvsp: ENSP00000363506.5:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*173G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.119G>A
  hgvsp: ENSP00000380686.1:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.119G>A
  hgvsp: ENSP00000335364.6:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.119G>A
  hgvsp: ENSP00000420584.1:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.119G>A
  hgvsp: ENSP00000352161.2:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.60G>A
  hgvsp: ENST00000374377.5:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.119G>A
  hgvsp: ENSP00000398531.1:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17838G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.114G>A
  hgvsp: ENSP00000411024.1:p.Arg39His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.119G>A
  hgvsp: ENSP00000380685.2:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.119G>A
  hgvsp: ENSP00000386064.2:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.119G>A
  hgvsp: ENSP00000399713.1:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.116G>A
  hgvsp: ENSP00000390334.1:p.Arg39His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.119G>A
  hgvsp: ENSP00000363501.2:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.119G>A
  hgvsp: ENSP00000445059.1:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.196G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.119G>A
  hgvsp: ENSP00000363505.2:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.119G>A
  hgvsp: ENSP00000416246.1:p.Arg40His
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg40His
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

20-33981906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981906
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981906
    reference: chr 20
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*172C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.118C>T
  hgvsp: ENSP00000399713.1:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.118C>T
  hgvsp: ENSP00000363501.2:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.131C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.118C>T
  hgvsp: ENSP00000352161.2:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.118C>T
  hgvsp: ENSP00000398531.1:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.118C>T
  hgvsp: ENSP00000380685.2:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.118C>T
  hgvsp: ENSP00000386064.2:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.113C>T
  hgvsp: ENSP00000411024.1:p.Arg39Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.118C>T
  hgvsp: ENSP00000335364.6:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.118C>T
  hgvsp: ENSP00000416246.1:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.118C>T
  hgvsp: ENSP00000445059.1:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.118C>T
  hgvsp: ENSP00000380686.1:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17837C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.118C>T
  hgvsp: ENSP00000420584.1:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.118C>T
  hgvsp: ENSP00000363506.5:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.118C>T
  hgvsp: ENSP00000363505.2:p.Arg40Cys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.195C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.59C>T
  hgvsp: ENSP00000363497.5:p.Ser20Leu
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg40Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

20-33981906-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981906
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981906
    reference: chr 20
allele count: 269
allele frequency: 2.216217106889222e-3
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.59C>G
  hgvsp: ENSP00000363497.5:p.Ser20Trp
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.118C>G
  hgvsp: ENSP00000352161.2:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.118C>G
  hgvsp: ENSP00000416246.1:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.118C>G
  hgvsp: ENSP00000398531.1:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.118C>G
  hgvsp: ENSP00000363501.2:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.113C>G
  hgvsp: ENSP00000411024.1:p.Arg39Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.118C>G
  hgvsp: ENSP00000445059.1:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.118C>G
  hgvsp: ENSP00000380686.1:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.118C>G
  hgvsp: ENSP00000335364.6:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.118C>G
  hgvsp: ENSP00000363505.2:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.118C>G
  hgvsp: ENSP00000420584.1:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.118C>G
  hgvsp: ENSP00000380685.2:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*172C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.118C>G
  hgvsp: ENSP00000399713.1:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.118C>G
  hgvsp: ENSP00000363506.5:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.131C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.195C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-84C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.115C>G
  hgvsp: ENSP00000390334.1:p.Arg39Gly
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg40Gly
num of homozygotes: 4
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/20-33981921-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981921
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981921
    reference: chr 20
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.103G>T
  hgvsp: ENSP00000363506.5:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.103G>T
  hgvsp: ENSP00000380686.1:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.98G>T
  hgvsp: ENSP00000411024.1:p.Asp34Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.103G>T
  hgvsp: ENSP00000416246.1:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.103G>T
  hgvsp: ENSP00000398531.1:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.103G>T
  hgvsp: ENSP00000335364.6:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.44G>T
  hgvsp: ENSP00000363497.5:p.Gly15Val
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-99G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*157G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17822G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.103G>T
  hgvsp: ENSP00000399713.1:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.103G>T
  hgvsp: ENSP00000420584.1:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.103G>T
  hgvsp: ENSP00000445059.1:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.103G>T
  hgvsp: ENSP00000363505.2:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.103G>T
  hgvsp: ENSP00000363501.2:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.100G>T
  hgvsp: ENSP00000390334.1:p.Asp34Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.103G>T
  hgvsp: ENSP00000352161.2:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.103G>T
  hgvsp: ENSP00000380685.2:p.Asp35Tyr
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.180G>T
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp35Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

20-33981921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981921
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981921
    reference: chr 20
allele count: 6
allele frequency: 4.942827956634923e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.103G>A
  hgvsp: ENSP00000380686.1:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.103G>A
  hgvsp: ENSP00000399713.1:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.103G>A
  hgvsp: ENSP00000363505.2:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.103G>A
  hgvsp: ENSP00000416246.1:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.103G>A
  hgvsp: ENSP00000445059.1:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.103G>A
  hgvsp: ENSP00000363501.2:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.103G>A
  hgvsp: ENSP00000380685.2:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.103G>A
  hgvsp: ENSP00000398531.1:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-99G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.103G>A
  hgvsp: ENSP00000363506.5:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.103G>A
  hgvsp: ENSP00000352161.2:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.98G>A
  hgvsp: ENSP00000411024.1:p.Asp34Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17822G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.180G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.103G>A
  hgvsp: ENSP00000335364.6:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*157G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.116G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.103G>A
  hgvsp: ENSP00000386064.2:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.103G>A
  hgvsp: ENSP00000420584.1:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp35Asn
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

20-33981922-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981922
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981922
    reference: chr 20
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.102G>C
  hgvsp: ENST00000438533.1:c.102G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.102G>C
  hgvsp: ENST00000374380.2:c.102G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17821G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.102G>C
  hgvsp: ENST00000374385.5:c.102G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.179G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.102G>C
  hgvsp: ENST00000407996.2:c.102G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.102G>C
  hgvsp: ENST00000374384.2:c.102G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.102G>C
  hgvsp: ENST00000491040.1:c.102G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.115G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*156G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.102G>C
  hgvsp: ENST00000542501.1:c.102G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.102G>C
  hgvsp: ENST00000424405.1:c.102G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-100G>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.43G>C
  hgvsp: ENSP00000363497.5:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.102G>C
  hgvsp: ENST00000397554.1:c.102G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.102G>C
  hgvsp: ENST00000443429.1:c.102G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.97G>C
  hgvsp: ENST00000457259.1:c.97G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.99G>C
  hgvsp: ENST00000453855.1:c.99G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.102G>C
  hgvsp: ENST00000359226.2:c.102G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly15Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

20-33981924-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981924
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981922
    reference: chr 20
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.98_99delAG
  hgvsp: ENSP00000399713.1:p.Gln33ArgfsTer22
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17817_-2+17818delAG
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.98_99delAG
  hgvsp: ENSP00000335364.6:p.Gln33ArgfsTer35
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.98_99delAG
  hgvsp: ENSP00000363501.2:p.Gln33ArgfsTer13
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.98_99delAG
  hgvsp: ENSP00000445059.1:p.Gln33ArgfsTer35
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.95_96delAG
  hgvsp: ENSP00000390334.1:p.Gln32ArgfsTer35
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.93_94delAG
  hgvsp: ENSP00000411024.1:p.Gln32ArgfsTer175
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.98_99delAG
  hgvsp: ENSP00000380686.1:p.Gln33ArgfsTer35
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.98_99delAG
  hgvsp: ENSP00000352161.2:p.Gln33ArgfsTer35
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.98_99delAG
  hgvsp: ENSP00000363506.5:p.Gln33ArgfsTer35
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.98_99delAG
  hgvsp: ENSP00000380685.2:p.Gln33ArgfsTer22
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.98_99delAG
  hgvsp: ENSP00000363505.2:p.Gln33ArgfsTer35
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.98_99delAG
  hgvsp: ENSP00000398531.1:p.Gln33ArgfsTer49
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.98_99delAG
  hgvsp: ENSP00000416246.1:p.Gln33ArgfsTer35
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.39_40delAG
  hgvsp: ENSP00000363497.5:p.Gly15ThrfsTer14
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.98_99delAG
  hgvsp: ENSP00000386064.2:p.Gln33ArgfsTer35
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-104_-103delAG
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*152_*153delAG
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.98_99delAG
  hgvsp: ENSP00000420584.1:p.Gln33ArgfsTer195
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln33ArgfsTer35
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: CCT
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-33981930-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981930
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981930
    reference: chr 20
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.94G>A
  hgvsp: ENSP00000386064.2:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.94G>A
  hgvsp: ENSP00000399713.1:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-108G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.94G>A
  hgvsp: ENSP00000363506.5:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.94G>A
  hgvsp: ENSP00000398531.1:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.94G>A
  hgvsp: ENSP00000445059.1:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.94G>A
  hgvsp: ENSP00000363501.2:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.94G>A
  hgvsp: ENSP00000416246.1:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.94G>A
  hgvsp: ENSP00000380686.1:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.94G>A
  hgvsp: ENSP00000352161.2:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.35G>A
  hgvsp: ENSP00000363497.5:p.Arg12Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.94G>A
  hgvsp: ENSP00000363505.2:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.94G>A
  hgvsp: ENSP00000420584.1:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.107G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17813G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.91G>A
  hgvsp: ENSP00000390334.1:p.Gly31Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.94G>A
  hgvsp: ENSP00000335364.6:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.89G>A
  hgvsp: ENSP00000411024.1:p.Gly31Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.94G>A
  hgvsp: ENSP00000380685.2:p.Gly32Arg
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly32Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

20-33981939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981939
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981939
    reference: chr 20
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.82C>T
  hgvsp: ENSP00000390334.1:p.Pro28Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.85C>T
  hgvsp: ENSP00000399713.1:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.85C>T
  hgvsp: ENSP00000363501.2:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-117C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.85C>T
  hgvsp: ENSP00000363505.2:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.85C>T
  hgvsp: ENSP00000386064.2:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.85C>T
  hgvsp: ENSP00000445059.1:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*139C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.85C>T
  hgvsp: ENSP00000363506.5:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.80C>T
  hgvsp: ENSP00000411024.1:p.Pro28Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.85C>T
  hgvsp: ENSP00000398531.1:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.85C>T
  hgvsp: ENSP00000380686.1:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.26C>T
  hgvsp: ENSP00000363497.5:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.85C>T
  hgvsp: ENSP00000420584.1:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.85C>T
  hgvsp: ENSP00000380685.2:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.85C>T
  hgvsp: ENSP00000416246.1:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.98C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.162C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17804C>T
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro29Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

20-33981947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981947
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981947
    reference: chr 20
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.90C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.77C>T
  hgvsp: ENSP00000398531.1:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.77C>T
  hgvsp: ENSP00000363505.2:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.77C>T
  hgvsp: ENSP00000352161.2:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.77C>T
  hgvsp: ENSP00000386064.2:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.77C>T
  hgvsp: ENSP00000363506.5:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.74C>T
  hgvsp: ENSP00000390334.1:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.77C>T
  hgvsp: ENSP00000363501.2:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.77C>T
  hgvsp: ENSP00000335364.6:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.77C>T
  hgvsp: ENSP00000380685.2:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-125C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.154C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.18C>T
  hgvsp: ENST00000374377.5:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.77C>T
  hgvsp: ENSP00000420584.1:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17796C>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.77C>T
  hgvsp: ENSP00000445059.1:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.77C>T
  hgvsp: ENSP00000416246.1:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.72C>T
  hgvsp: ENSP00000411024.1:p.Pro25Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*131C>T
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro26Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

20-33981953-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981953
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981953
    reference: chr 20
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.71T>C
  hgvsp: ENSP00000335364.6:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-131T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.71T>C
  hgvsp: ENSP00000416246.1:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.71T>C
  hgvsp: ENSP00000363506.5:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.68T>C
  hgvsp: ENSP00000390334.1:p.Leu23Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.71T>C
  hgvsp: ENSP00000380686.1:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.12T>C
  hgvsp: ENST00000374377.5:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.71T>C
  hgvsp: ENSP00000399713.1:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.71T>C
  hgvsp: ENSP00000363501.2:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.66T>C
  hgvsp: ENSP00000411024.1:p.Leu23Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.71T>C
  hgvsp: ENSP00000363505.2:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.71T>C
  hgvsp: ENSP00000386064.2:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.71T>C
  hgvsp: ENSP00000445059.1:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.71T>C
  hgvsp: ENSP00000352161.2:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.71T>C
  hgvsp: ENSP00000420584.1:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17790T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*125T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.71T>C
  hgvsp: ENSP00000398531.1:p.Leu24Ser
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.148T>C
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu24Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

20-33981956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981956
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981956
    reference: chr 20
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.68G>A
  hgvsp: ENSP00000386064.2:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.68G>A
  hgvsp: ENSP00000363501.2:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.68G>A
  hgvsp: ENSP00000352161.2:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.68G>A
  hgvsp: ENSP00000363506.5:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.68G>A
  hgvsp: ENSP00000380686.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.68G>A
  hgvsp: ENSP00000399713.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.145G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.68G>A
  hgvsp: ENSP00000445059.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*122G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.68G>A
  hgvsp: ENSP00000416246.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.81G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.65G>A
  hgvsp: ENSP00000390334.1:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.68G>A
  hgvsp: ENSP00000420584.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.68G>A
  hgvsp: ENSP00000380685.2:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17787G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.68G>A
  hgvsp: ENSP00000335364.6:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.68G>A
  hgvsp: ENSP00000398531.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.9G>A
  hgvsp: ENST00000374377.5:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.68G>A
  hgvsp: ENSP00000363505.2:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg23Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

20-33981958-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981958
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981958
    reference: chr 20
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.66C>G
  hgvsp: ENSP00000335364.6:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.66C>G
  hgvsp: ENSP00000420584.1:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.66C>G
  hgvsp: ENSP00000363501.2:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.7C>G
  hgvsp: ENSP00000363497.5:p.Pro3Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.66C>G
  hgvsp: ENSP00000380686.1:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.66C>G
  hgvsp: ENSP00000416246.1:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.66C>G
  hgvsp: ENSP00000398531.1:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.66C>G
  hgvsp: ENSP00000363506.5:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.143C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.66C>G
  hgvsp: ENSP00000399713.1:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-136C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.66C>G
  hgvsp: ENSP00000445059.1:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.66C>G
  hgvsp: ENSP00000386064.2:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.66C>G
  hgvsp: ENSP00000352161.2:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.63C>G
  hgvsp: ENSP00000390334.1:p.Ser21Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.66C>G
  hgvsp: ENSP00000380685.2:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.79C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*120C>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.61C>G
  hgvsp: ENSP00000411024.1:p.Ser21Arg
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser22Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

20-33981967-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981967
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981967
    reference: chr 20
allele count: 7
allele frequency: 5.770340450086555e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.57A>G
  hgvsp: ENST00000542501.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-145A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.70A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.57A>G
  hgvsp: ENST00000438533.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.57A>G
  hgvsp: ENST00000397553.2:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-3A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.57A>G
  hgvsp: ENST00000443429.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.57A>G
  hgvsp: ENST00000491040.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.54A>G
  hgvsp: ENST00000453855.1:c.54A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.57A>G
  hgvsp: ENST00000424405.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.57A>G
  hgvsp: ENST00000359226.2:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.57A>G
  hgvsp: ENST00000397554.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.57A>G
  hgvsp: ENST00000407996.2:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.57A>G
  hgvsp: ENST00000374385.5:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.52A>G
  hgvsp: ENST00000457259.1:c.52A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.57A>G
  hgvsp: ENST00000349714.5:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.57A>G
  hgvsp: ENST00000374380.2:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17776A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.134A>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro19Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

20-33981970-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981970
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981970
    reference: chr 20
allele count: 10
allele frequency: 8.243615319934711e-5
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380688
  ensembl transcript: ENST00000397556
  gene symbol: UQCC1
  hgvsc: ENST00000397556.3:c.-148T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.54T>C
  hgvsp: ENST00000397554.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*108T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.54T>C
  hgvsp: ENST00000438533.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17773T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.54T>C
  hgvsp: ENST00000374385.5:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.54T>C
  hgvsp: ENST00000349714.5:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.54T>C
  hgvsp: ENST00000443429.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.54T>C
  hgvsp: ENST00000359226.2:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.54T>C
  hgvsp: ENST00000424405.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.131T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.51T>C
  hgvsp: ENST00000453855.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.54T>C
  hgvsp: ENST00000374384.2:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.54T>C
  hgvsp: ENST00000374380.2:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-6T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.54T>C
  hgvsp: ENST00000491040.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.54T>C
  hgvsp: ENST00000397553.2:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.54T>C
  hgvsp: ENST00000407996.2:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.49T>C
  hgvsp: ENST00000457259.1:c.49T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val18Val
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: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

20-33981984-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981984
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981984
    reference: chr 20
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.40A>C
  hgvsp: ENSP00000335364.6:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.40A>C
  hgvsp: ENSP00000420584.1:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.40A>C
  hgvsp: ENSP00000445059.1:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.40A>C
  hgvsp: ENSP00000399713.1:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.40A>C
  hgvsp: ENSP00000363506.5:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.40A>C
  hgvsp: ENSP00000352161.2:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.40A>C
  hgvsp: ENSP00000380686.1:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17759A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.40A>C
  hgvsp: ENSP00000386064.2:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.40A>C
  hgvsp: ENSP00000363501.2:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-20A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.40A>C
  hgvsp: ENSP00000416246.1:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.40A>C
  hgvsp: ENSP00000398531.1:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.35A>C
  hgvsp: ENSP00000411024.1:p.Ile13Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.40A>C
  hgvsp: ENSP00000380685.2:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.40A>C
  hgvsp: ENSP00000363505.2:p.Ile14Leu
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*94A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.117A>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.37A>C
  hgvsp: ENSP00000390334.1:p.Ile13Leu
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile14Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

20-33981987-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981987
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981987
    reference: chr 20
allele count: 476
allele frequency: 3.92778162854408e-3
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.37A>G
  hgvsp: ENSP00000380685.2:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.37A>G
  hgvsp: ENSP00000380686.1:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.37A>G
  hgvsp: ENSP00000363501.2:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.37A>G
  hgvsp: ENSP00000352161.2:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.37A>G
  hgvsp: ENSP00000420584.1:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*91A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.37A>G
  hgvsp: ENSP00000335364.6:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.34A>G
  hgvsp: ENSP00000390334.1:p.Ser12Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.37A>G
  hgvsp: ENSP00000363506.5:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.37A>G
  hgvsp: ENSP00000398531.1:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.37A>G
  hgvsp: ENSP00000445059.1:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.37A>G
  hgvsp: ENSP00000399713.1:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.114A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.37A>G
  hgvsp: ENSP00000363505.2:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.37A>G
  hgvsp: ENSP00000416246.1:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17756A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.50A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.37A>G
  hgvsp: ENSP00000386064.2:p.Ser13Gly
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-23A>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser13Gly
num of homozygotes: 9
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

20-33981990-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981990
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981990
    reference: chr 20
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.34A>G
  hgvsp: ENSP00000335364.6:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.34A>G
  hgvsp: ENSP00000399713.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.34A>G
  hgvsp: ENSP00000398531.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.34A>G
  hgvsp: ENSP00000363501.2:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.31A>G
  hgvsp: ENSP00000390334.1:p.Thr11Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.34A>G
  hgvsp: ENSP00000416246.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.34A>G
  hgvsp: ENSP00000386064.2:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.34A>G
  hgvsp: ENSP00000363505.2:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17753A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.34A>G
  hgvsp: ENSP00000363506.5:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.34A>G
  hgvsp: ENSP00000445059.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.34A>G
  hgvsp: ENSP00000352161.2:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*88A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.29A>G
  hgvsp: ENSP00000411024.1:p.Thr11Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.111A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.34A>G
  hgvsp: ENSP00000380685.2:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-26A>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.34A>G
  hgvsp: ENSP00000380686.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.34A>G
  hgvsp: ENSP00000420584.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr12Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-33981993-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33981993
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33981993
    reference: chr 20
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.31C>A
  hgvsp: ENSP00000445059.1:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.31C>A
  hgvsp: ENSP00000363501.2:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.31C>A
  hgvsp: ENSP00000380685.2:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.31C>A
  hgvsp: ENSP00000398531.1:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*85C>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.31C>A
  hgvsp: ENSP00000352161.2:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.31C>A
  hgvsp: ENSP00000335364.6:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.31C>A
  hgvsp: ENSP00000416246.1:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.31C>A
  hgvsp: ENSP00000363505.2:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.44C>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17750C>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.31C>A
  hgvsp: ENSP00000380686.1:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.31C>A
  hgvsp: ENSP00000399713.1:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.31C>A
  hgvsp: ENSP00000386064.2:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.31C>A
  hgvsp: ENSP00000363506.5:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.26C>A
  hgvsp: ENSP00000411024.1:p.Gln10Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.28C>A
  hgvsp: ENSP00000390334.1:p.Gln10Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.31C>A
  hgvsp: ENSP00000420584.1:p.Gln11Lys
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-29C>A
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln11Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

20-33982003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33982003
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33982003
    reference: chr 20
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.22-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*79-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.20-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.38-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-35-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.102-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.25-4T>C
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.25-4T>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

20-33982009-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33982009
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33982007
    reference: chr 20
allele count: 2
allele frequency: 1.656424442199069e-5
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17732_-2+17733delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.20-12_20-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*79-12_*79-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.22-12_22-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.38-12_38-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-35-12_-35-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.102-12_102-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.25-12_25-11delTT
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: GAA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

20-33982012-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33982012
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33982012
    reference: chr 20
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-35-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.22-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.102-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*79-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17731T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.38-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.20-13T>C
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.25-13T>C
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/20-33982021-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33982021
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33982021
    reference: chr 20
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17722G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*79-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.20-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.102-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-35-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.38-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.22-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.25-22G>T
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum

20-33982032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33982032
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33982032
    reference: chr 20
allele count: 1
allele frequency: 8.345712807330875e-6
allele num: 119822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*79-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.38-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.20-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.22-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17711G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-35-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.102-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.25-33G>A
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/20-33982035-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33982035
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 33982035
    reference: chr 20
allele count: 1
allele frequency: 8.346548702111677e-6
allele num: 119810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000495752
  gene symbol: UQCC1
  hgvsc: ENST00000495752.1:n.102-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000390334
  ensembl transcript: ENST00000453855
  gene symbol: UQCC1
  hgvsc: ENST00000453855.1:c.22-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl transcript: ENST00000491125
  gene symbol: UQCC1
  hgvsc: ENST00000491125.1:n.38-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363506
  ensembl transcript: ENST00000374385
  gene symbol: UQCC1
  hgvsc: ENST00000374385.5:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380686
  ensembl transcript: ENST00000397554
  gene symbol: UQCC1
  hgvsc: ENST00000397554.1:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000441316
  ensembl transcript: ENST00000540457
  gene symbol: UQCC1
  hgvsc: ENST00000540457.1:c.-2+17708T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363505
  ensembl transcript: ENST00000374384
  gene symbol: UQCC1
  hgvsc: ENST00000374384.2:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000420584
  ensembl transcript: ENST00000491040
  gene symbol: UQCC1
  hgvsc: ENST00000491040.1:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000416246
  ensembl transcript: ENST00000443429
  gene symbol: UQCC1
  hgvsc: ENST00000443429.1:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000399713
  ensembl transcript: ENST00000424405
  gene symbol: UQCC1
  hgvsc: ENST00000424405.1:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000335364
  ensembl transcript: ENST00000349714
  gene symbol: UQCC1
  hgvsc: ENST00000349714.5:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363497
  ensembl transcript: ENST00000374377
  gene symbol: UQCC1
  hgvsc: ENST00000374377.5:c.-35-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363515
  ensembl transcript: ENST00000374394
  gene symbol: UQCC1
  hgvsc: ENST00000374394.3:c.*79-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000398531
  ensembl transcript: ENST00000438533
  gene symbol: UQCC1
  hgvsc: ENST00000438533.1:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000386064
  ensembl transcript: ENST00000407996
  gene symbol: UQCC1
  hgvsc: ENST00000407996.2:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000363501
  ensembl transcript: ENST00000374380
  gene symbol: UQCC1
  hgvsc: ENST00000374380.2:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000352161
  ensembl transcript: ENST00000359226
  gene symbol: UQCC1
  hgvsc: ENST00000359226.2:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000445059
  ensembl transcript: ENST00000542501
  gene symbol: UQCC1
  hgvsc: ENST00000542501.1:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000411024
  ensembl transcript: ENST00000457259
  gene symbol: UQCC1
  hgvsc: ENST00000457259.1:c.20-36T>G
  variant of: http://identifiers.org/hgnc/15891
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101019
  ensembl protein: ENSP00000380685
  ensembl transcript: ENST00000397553
  gene symbol: UQCC1
  hgvsc: ENST00000397553.2:c.25-36T>G
  variant of: http://identifiers.org/hgnc/15891
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 778
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1770
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1484
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1311
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1271
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.76243093922652e-4
allele num: 3620
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.976e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 1.92838e5

QD
type: SiteQuality
SIO_000300: 1.107e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000399713
ensembl transcript: ENST00000424405
gene symbol: UQCC1
hgvsc: ENST00000424405.1:c.130-4335A>T
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 184
bin: 4.25e1
variant carriers: 175

GenotypeDepth
all individuals: 417
bin: 7.25e1
variant carriers: 417

GenotypeDepth
all individuals: 135
bin: 7.5e0
variant carriers: 98

GenotypeDepth
all individuals: 336
bin: 5.75e1
variant carriers: 335

GenotypeDepth
all individuals: 335
bin: 8.25e1
variant carriers: 335

GenotypeDepth
all individuals: 13
bin: 1.25e1
variant carriers: 9

GenotypeDepth
all individuals: 521
bin: 9.75e1
variant carriers: 521

GenotypeDepth
all individuals: 771
bin: 2.25e1
variant carriers: 42

GenotypeDepth
all individuals: 416
bin: 7.75e1
variant carriers: 416

GenotypeDepth
all individuals: 269
bin: 8.75e1
variant carriers: 269

GenotypeDepth
all individuals: 767
bin: 2.5e0
variant carriers: 243

GenotypeDepth
all individuals: 286
bin: 3.25e1
variant carriers: 127

GenotypeDepth
all individuals: 817
bin: 2.75e1
variant carriers: 115

GenotypeDepth
all individuals: 285
bin: 5.25e1
variant carriers: 285

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 18

GenotypeDepth
all individuals: 186
bin: 3.75e1
variant carriers: 163

GenotypeDepth
all individuals: 228
bin: 9.25e1
variant carriers: 228

GenotypeDepth
all individuals: 429
bin: 6.75e1
variant carriers: 428

GenotypeDepth
all individuals: 237
bin: 4.75e1
variant carriers: 232

GenotypeDepth
all individuals: 409
bin: 6.25e1
variant carriers: 407

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 46

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 46
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 536
bin: 7.5e0
variant carriers: 154

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 20

GenotypeQuality
all individuals: 68
bin: 7.75e1
variant carriers: 30

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 72

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 25

GenotypeQuality
all individuals: 181
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 37
bin: 8.25e1
variant carriers: 18

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

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

GenotypeQuality
all individuals: 223
bin: 6.75e1
variant carriers: 14

GenotypeQuality
all individuals: 4402
bin: 9.75e1
variant carriers: 4385

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1296
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 12

East Asian
type: Population
allele count: 132
allele frequency: 6.666666666666666e-1
allele num: 198
num of homozygotes: 45

European (Non-Finnish)
type: Population
allele count: 2137
allele frequency: 5.916389811738649e-1
allele num: 3612
num of homozygotes: 641

African
type: Population
allele count: 212
allele frequency: 3.868613138686132e-1
allele num: 548
num of homozygotes: 39

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

Other
type: Population
allele count: 77
allele frequency: 5.833333333333334e-1
allele num: 132
num of homozygotes: 23

South Asian
type: Population
allele count: 3403
allele frequency: 4.468224789915967e-1
allele num: 7616
num of homozygotes: 772

Latino
type: Population
allele count: 105
allele frequency: 5.706521739130435e-1
allele num: 184
num of homozygotes: 28

DP
type: SiteQuality
SIO_000300: 3.55471e5

FS
type: SiteQuality
SIO_000300: 5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

QD
type: SiteQuality
SIO_000300: 1.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

GenotypeDepth
all individuals: 294
bin: 1.75e1
variant carriers: 5

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

GenotypeDepth
all individuals: 89
bin: 3.75e1
variant carriers: 4

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

GenotypeDepth
all individuals: 1376
bin: 2.5e0
variant carriers: 3

GenotypeDepth
all individuals: 1525
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 238
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 656
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 14
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 744
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2587
bin: 2.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 30
bin: 4.25e1
variant carriers: 8

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

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

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

GenotypeDepth
all individuals: 6
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 215
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1175
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3386
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.136363636363636e-2
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 5.451127819548872e-2
allele num: 532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.339405304045004e-4
allele num: 7466
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

DP
type: SiteQuality
SIO_000300: 1.48833e5

QD
type: SiteQuality
SIO_000300: 1.521e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000335364
ensembl transcript: ENST00000349714
gene symbol: UQCC1
hgvsc: ENST00000349714.5:c.130-2276T>G
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 1398
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1384
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 2329
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 482
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1019
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeDepth
all individuals: 589
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.3430029546065e-4
allele num: 7446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

QD
type: SiteQuality
SIO_000300: 1.365e1

DP
type: SiteQuality
SIO_000300: 1.42294e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000399713
ensembl transcript: ENST00000424405
gene symbol: UQCC1
hgvsc: ENST00000424405.1:c.130-4392delA
variant of: http://identifiers.org/hgnc/15891

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

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1221
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 440
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1460
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1827
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1308
bin: 1.25e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 272
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.981514609421586e-4
allele num: 3354
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7426
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

DP
type: SiteQuality
SIO_000300: 1.32407e5

MQ
type: SiteQuality
SIO_000300: 5.889e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.273e0

GenotypeDepth
all individuals: 355
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1157
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1341
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1540
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1497
bin: 2.5e0
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 1381
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 726
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3334
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.937984496124031e-3
allele num: 516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.42e0

DP
type: SiteQuality
SIO_000300: 1.27449e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

MQ
type: SiteQuality
SIO_000300: 5.777e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000363505
ensembl transcript: ENST00000374384
gene symbol: UQCC1
hgvsc: ENST00000374384.2:c.130-2289C>T
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 1514
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1508
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1113
bin: 2.25e1
variant carriers: 1

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

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

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

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

GenotypeDepth
all individuals: 1415
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1392
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 315
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.008423586040915e-4
allele num: 3324
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.485e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

DP
type: SiteQuality
SIO_000300: 1.2547e5

QD
type: SiteQuality
SIO_000300: 6.41e0

VQSLOD
type: SiteQuality
SIO_000300: -1.915e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380688
ensembl transcript: ENST00000397556
gene symbol: UQCC1
hgvsc: ENST00000397556.3:c.-72-4409A>T
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 1614
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1970
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1388
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1348
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 737
bin: 2.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 682
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.375894331315355e-4
allele num: 7268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.517e0

DP
type: SiteQuality
SIO_000300: 1.17695e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

QD
type: SiteQuality
SIO_000300: 1.179e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000495752
gene symbol: UQCC1
hgvsc: ENST00000495752.1:n.206+1894G>A
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 882
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1844
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1165
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 978
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 728
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 689
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1127
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 54
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 348
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.877471888328809e-4
allele num: 5158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

QD
type: SiteQuality
SIO_000300: 7.97e0

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.321e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.03e-1

DP
type: SiteQuality
SIO_000300: 3.1986e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000399713
ensembl transcript: ENST00000424405
gene symbol: UQCC1
hgvsc: ENST00000424405.1:c.129+1878A>G
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1633
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 153
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 236
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 349
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 141
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 882
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 789
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 947
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 992
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1127
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 763
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1203
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.937007874015748e-3
allele num: 254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1540
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.314814814814815e-3
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.617801047120419e-4
allele num: 7640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.787037037037037e-4
allele num: 5184
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 2.111e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

DP
type: SiteQuality
SIO_000300: 3.23076e5

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

QD
type: SiteQuality
SIO_000300: 1.35e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380688
ensembl transcript: ENST00000397556
gene symbol: UQCC1
hgvsc: ENST00000397556.3:c.-73+1865C>T
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 1000
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 882
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1165
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1056
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 860
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1475
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 152
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 492
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.309243257397224e-4
allele num: 7638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

FS
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

VQSLOD
type: SiteQuality
SIO_000300: -1.306e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.661e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 3.25206e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000352161
ensembl transcript: ENST00000359226
gene symbol: UQCC1
hgvsc: ENST00000359226.2:c.129+1818C>T
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 1346
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 876
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1127
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1080
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 883
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1006
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 864
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1166
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 63
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3789
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.311991603253739e-4
allele num: 7622
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.057e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 3.27501e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

FS
type: SiteQuality
SIO_000300: 5.52e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000398531
ensembl transcript: ENST00000438533
gene symbol: UQCC1
hgvsc: ENST00000438533.1:c.130-12C>T
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 140
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 885
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 348
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1165
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 988
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 861
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 847
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1427
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1127
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3789
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 429
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.868460388639761e-4
allele num: 5352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1

QD
type: SiteQuality
SIO_000300: 1.103e1

FS
type: SiteQuality
SIO_000300: 1.133e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 3.2655e5

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000386064
ensembl transcript: ENST00000407996
gene symbol: UQCC1
hgvsc: ENST00000407996.2:c.129+1796G>C
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 848
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 854
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1165
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 448
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 883
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 207
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 845
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.69e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

DP
type: SiteQuality
SIO_000300: 3.26015e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

FS
type: SiteQuality
SIO_000300: 6.047e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 839
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 584
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1003
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 482
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 64
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1166
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 882
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 835
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1550
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3790
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.51597143930853e-4
allele num: 5322
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 3.24606e5

QD
type: SiteQuality
SIO_000300: 1.5e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -1.123e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.017e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.97e-1

FS
type: SiteQuality
SIO_000300: 2.036e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000352161
ensembl transcript: ENST00000359226
gene symbol: UQCC1
hgvsc: ENST00000359226.2:c.129+1779G>A
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 328
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 582
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1128
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 882
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 140
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 482
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 56
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1003
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1591
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 824
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 836
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1165
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 62
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 97
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 356
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 300
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3793
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

African
type: Population
allele count: 15
allele frequency: 1.736111111111111e-2
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.2428e5

QD
type: SiteQuality
SIO_000300: 1.331e1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

FS
type: SiteQuality
SIO_000300: 6.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380688
ensembl transcript: ENST00000397556
gene symbol: UQCC1
hgvsc: ENST00000397556.3:c.-73+1778C>T
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 884
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1608
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 824
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 485
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 837
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1128
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 996
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5302
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.237e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

QD
type: SiteQuality
SIO_000300: 6.07e0

DP
type: SiteQuality
SIO_000300: 3.24019e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000352161
ensembl transcript: ENST00000359226
gene symbol: UQCC1
hgvsc: ENST00000359226.2:c.129+1774G>T
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 61
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1132
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 849
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 988
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1632
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 812
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 882
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 483
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1162
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 969
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.766478342749529e-4
allele num: 5310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

QD
type: SiteQuality
SIO_000300: 1.524e1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 3.23653e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.955e0

GenotypeDepth
all individuals: 1632
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 812
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 882
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1162
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 988
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 849
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1132
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.883239171374765e-4
allele num: 5310
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.955e0

QD
type: SiteQuality
SIO_000300: 1.524e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

DP
type: SiteQuality
SIO_000300: 3.23653e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000398531
ensembl transcript: ENST00000438533
gene symbol: UQCC1
hgvsc: ENST00000438533.1:c.129+46_129+49dupATGT
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 278
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3185
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6573
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 469
bin: 6.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 676
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14898
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22547
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7005
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1728
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8640
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 362
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 98
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26468
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3686
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4742
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 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: 8634
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.438e0

MQ
type: SiteQuality
SIO_000300: 5.546e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.404e1

DP
type: SiteQuality
SIO_000300: 1.991139e6

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.176e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000398531
ensembl transcript: ENST00000438533
gene symbol: UQCC1
hgvsc: ENST00000438533.1:c.129+48G>A
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 468
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 576
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 75
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1728
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1014
bin: 5.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 3182
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22571
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 7067
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 280
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 14915
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 122
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 232
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 710
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 6572
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 585
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8637
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.75206363499925e-4
allele num: 66630
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.969e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

DP
type: SiteQuality
SIO_000300: 1.991883e6

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380688
ensembl transcript: ENST00000397556
gene symbol: UQCC1
hgvsc: ENST00000397556.3:c.-73+47T>C
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 121
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14922
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 22596
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 707
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3182
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 513
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6568
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7122
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1725
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1630
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8619
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 225
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4758
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2255
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
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: 66630
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: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.638e0

QD
type: SiteQuality
SIO_000300: 1.299e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-1

FS
type: SiteQuality
SIO_000300: 2.433e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 1.991504e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000495752
gene symbol: UQCC1
hgvsc: ENST00000495752.1:n.206+46A>T
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 7164
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22618
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 585
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3181
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 707
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6571
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14923
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 276
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1727
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1012
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4756
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8495
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.203e1

FS
type: SiteQuality
SIO_000300: 1.3458e1

DP
type: SiteQuality
SIO_000300: 1.99195e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.701e0

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000398531
ensembl transcript: ENST00000438533
gene symbol: UQCC1
hgvsc: ENST00000438533.1:c.129+46A>G
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 466
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14923
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3181
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 585
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22618
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7164
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6571
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1727
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 276
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 311
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 707
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3699
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1629
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4756
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.701e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

FS
type: SiteQuality
SIO_000300: 1.3458e1

DP
type: SiteQuality
SIO_000300: 1.99195e6

GenotypeDepth
all individuals: 707
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14951
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1012
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1725
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22636
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3181
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6572
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7268
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 121
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8509
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2255
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4755
bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.992945e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 9.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.393e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000363497
ensembl transcript: ENST00000374377
gene symbol: UQCC1
hgvsc: ENST00000374377.5:c.70+33A>C
variant of: http://identifiers.org/hgnc/15891

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

GenotypeDepth
all individuals: 586
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7444
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 708
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22696
bin: 2.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 15022
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6585
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1726
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3182
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27444
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8620
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1634
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3703
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4763
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501260352898812e-5
allele num: 66648
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: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

QD
type: SiteQuality
SIO_000300: 1.568e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 1.996351e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000399713
ensembl transcript: ENST00000424405
gene symbol: UQCC1
hgvsc: ENST00000424405.1:c.129+28A>G
variant of: http://identifiers.org/hgnc/15891

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

GenotypeDepth
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22729
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1727
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15038
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7458
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6590
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3184
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 706
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4768
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8541
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27500
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3714
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1637
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.123e0

DP
type: SiteQuality
SIO_000300: 1.997233e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e0

QD
type: SiteQuality
SIO_000300: 1.531e1

FS
type: SiteQuality
SIO_000300: 1.0365e1

VQSLOD
type: SiteQuality
SIO_000300: -1.254e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 706
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3183
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 311
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15055
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 467
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6589
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22777
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1730
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7478
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8556
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1639
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3707
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8621
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.978e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.049e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.998548e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

QD
type: SiteQuality
SIO_000300: 1.647e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000399713
ensembl transcript: ENST00000424405
gene symbol: UQCC1
hgvsc: ENST00000424405.1:c.129+16C>G
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1015
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15061
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6591
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22788
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7486
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 706
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3183
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8621
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4773
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 7.25e1
variant carriers: 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: 16498
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: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
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: 8640
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

FS
type: SiteQuality
SIO_000300: 6.964e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.174e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

DP
type: SiteQuality
SIO_000300: 1.999064e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380686
ensembl transcript: ENST00000397554
gene symbol: UQCC1
hgvsc: ENST00000397554.1:c.129+6A>C
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000363497
ensembl transcript: ENST00000374377
gene symbol: UQCC1
hgvsc: ENST00000374377.5:c.70+6A>C
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7520
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 707
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22806
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6592
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3185
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 311
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15066
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3705
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27672
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 10404
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

FS
type: SiteQuality
SIO_000300: 2.34e0

QD
type: SiteQuality
SIO_000300: 1.7e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.999923e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000416246
ensembl transcript: ENST00000443429
gene symbol: UQCC1
hgvsc: ENST00000443429.1:c.129+4A>G
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000441316
ensembl transcript: ENST00000540457
gene symbol: UQCC1
hgvsc: ENST00000540457.1:c.-2+17852A>G
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 6593
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7531
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22808
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3185
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15066
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 707
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27684
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3704
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4771
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1643
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.476e1

VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.586e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

FS
type: SiteQuality
SIO_000300: 2.254e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 1.999741e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.172e0

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7529
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 22814
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15069
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3184
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6593
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 467
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 706
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8574
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4770
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27684
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.785e0

FS
type: SiteQuality
SIO_000300: 1.8575e1

MQ
type: SiteQuality
SIO_000300: 4.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

QD
type: SiteQuality
SIO_000300: 1.832e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.321e0

VQSLOD
type: SiteQuality
SIO_000300: -6.901e0

DP
type: SiteQuality
SIO_000300: 1.999786e6

Annotation
canonical: false
consequence: inframe_insertion
consequence: splice_region_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000335364
ensembl transcript: ENST00000349714
gene symbol: UQCC1
variant of: http://identifiers.org/hgnc/15891

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

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

GenotypeDepth
all individuals: 15069
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22816
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7540
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1014
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3184
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6594
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 706
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27700
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4770
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8623
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.993e1

MQRankSum
type: SiteQuality
SIO_000300: -7.046e0

VQSLOD
type: SiteQuality
SIO_000300: -2.934e0

QD
type: SiteQuality
SIO_000300: 4.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.999986e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 2.1054e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.575e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000390334
ensembl transcript: ENST00000453855
gene symbol: UQCC1
hgvsc: ENST00000453855.1:c.124C>G
hgvsp: ENSP00000390334.1:p.Gln42Glu
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000495752
gene symbol: UQCC1
hgvsc: ENST00000495752.1:n.204C>G
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380685
ensembl transcript: ENST00000397553
gene symbol: UQCC1
hgvsc: ENST00000397553.2:c.127C>G
hgvsp: ENSP00000380685.2:p.Gln43Glu
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380688
ensembl transcript: ENST00000397556
gene symbol: UQCC1
hgvsc: ENST00000397556.3:c.-75C>G
variant of: http://identifiers.org/hgnc/15891

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

GenotypeDepth
all individuals: 706
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7534
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22821
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3184
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15072
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6593
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 3350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27699
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8623
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4771
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 16508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

DP
type: SiteQuality
SIO_000300: 2.00007e6

MQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000441316
ensembl transcript: ENST00000540457
gene symbol: UQCC1
hgvsc: ENST00000540457.1:c.-2+17840A>C
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000335364
ensembl transcript: ENST00000349714
gene symbol: UQCC1
hgvsc: ENST00000349714.5:c.121A>C
hgvsp: ENSP00000335364.6:p.Thr41Pro
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 1729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 465
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 706
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3186
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22830
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15072
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6592
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7541
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27721
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3706
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8623
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 2.335e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e0

DP
type: SiteQuality
SIO_000300: 2.000284e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

QD
type: SiteQuality
SIO_000300: 1.663e1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380688
ensembl transcript: ENST00000397556
gene symbol: UQCC1
hgvsc: ENST00000397556.3:c.-83G>A
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000491125
gene symbol: UQCC1
hgvsc: ENST00000491125.1:n.132G>A
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6592
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1011
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22830
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3186
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 706
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 465
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7542
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 15075
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1731
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 9.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8621
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 27721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8569
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 2.0191e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 2.000448e6

VQSLOD
type: SiteQuality
SIO_000300: -3.339e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.942e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380688
ensembl transcript: ENST00000397556
gene symbol: UQCC1
hgvsc: ENST00000397556.3:c.-84C>T
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000390334
ensembl transcript: ENST00000453855
gene symbol: UQCC1
hgvsc: ENST00000453855.1:c.115C>T
hgvsp: ENSP00000390334.1:p.Arg39Cys
variant of: http://identifiers.org/hgnc/15891

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

GenotypeDepth
all individuals: 150
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 986
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7534
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6580
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3170
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15054
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22829
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 127
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 757
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1707
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8661
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3347
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3696
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4765
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

DP
type: SiteQuality
SIO_000300: 2.019187e6

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000441316
ensembl transcript: ENST00000540457
gene symbol: UQCC1
hgvsc: ENST00000540457.1:c.-2+17837C>G
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000386064
ensembl transcript: ENST00000407996
gene symbol: UQCC1
hgvsc: ENST00000407996.2:c.118C>G
hgvsp: ENSP00000386064.2:p.Arg40Gly
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 7534
bin: 2.25e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 1707
bin: 4.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 22829
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 62
bin: 9.25e1
variant carriers: 14

GenotypeDepth
all individuals: 150
bin: 7.75e1
variant carriers: 8

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

GenotypeDepth
all individuals: 3170
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 986
bin: 5.25e1
variant carriers: 6

GenotypeDepth
all individuals: 15054
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 222
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 676
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 6580
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 450
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 127
bin: 8.25e1
variant carriers: 12

GenotypeDepth
all individuals: 296
bin: 6.75e1
variant carriers: 4

GenotypeDepth
all individuals: 757
bin: 9.75e1
variant carriers: 189

GenotypeQuality
all individuals: 8568
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1641
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8661
bin: 9.75e1
variant carriers: 265

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

GenotypeQuality
all individuals: 3696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4765
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3347
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 254
allele frequency: 2.440899481068614e-2
allele num: 10406
num of homozygotes: 4

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

Latino
type: Population
allele count: 12
allele frequency: 1.036985827860353e-3
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

QD
type: SiteQuality
SIO_000300: 1.279e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.019187e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000386064
ensembl transcript: ENST00000407996
gene symbol: UQCC1
hgvsc: ENST00000407996.2:c.103G>T
hgvsp: ENSP00000386064.2:p.Asp35Tyr
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000491125
gene symbol: UQCC1
hgvsc: ENST00000491125.1:n.116G>T
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22951
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7551
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 983
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1706
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 675
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6605
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3182
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15104
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8609
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27858
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3712
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8442
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4780
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.116e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.353e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.994964e6

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000390334
ensembl transcript: ENST00000453855
gene symbol: UQCC1
hgvsc: ENST00000453855.1:c.100G>A
hgvsp: ENSP00000390334.1:p.Asp34Asn
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000363497
ensembl transcript: ENST00000374377
gene symbol: UQCC1
hgvsc: ENST00000374377.5:c.44G>A
hgvsp: ENSP00000363497.5:p.Gly15Glu
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 675
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22951
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15104
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6605
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 218
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 983
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7551
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3182
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3712
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27858
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8442
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3359
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1645
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 6.939625260235947e-4
allele num: 8646
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 66728
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.353e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.994964e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380685
ensembl transcript: ENST00000397553
gene symbol: UQCC1
hgvsc: ENST00000397553.2:c.102G>C
hgvsp: ENST00000397553.2:c.102G>C(p.%3D)
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000335364
ensembl transcript: ENST00000349714
gene symbol: UQCC1
hgvsc: ENST00000349714.5:c.102G>C
hgvsp: ENST00000349714.5:c.102G>C(p.%3D)
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6605
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 983
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3181
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7549
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22957
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15107
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 577
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1706
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8610
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27860
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 11576
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.994253e6

VQSLOD
type: SiteQuality
SIO_000300: 4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.25e-1

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000495752
gene symbol: UQCC1
hgvsc: ENST00000495752.1:n.175_176delAG
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000491125
gene symbol: UQCC1
hgvsc: ENST00000491125.1:n.111_112delAG
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 22955
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7547
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 983
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6604
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3183
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3361
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8435
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 27857
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.05e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.202e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

DP
type: SiteQuality
SIO_000300: 1.994246e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000363515
ensembl transcript: ENST00000374394
gene symbol: UQCC1
hgvsc: ENST00000374394.3:c.*148G>A
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000495752
gene symbol: UQCC1
hgvsc: ENST00000495752.1:n.171G>A
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 218
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6605
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22956
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7551
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15110
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3181
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27862
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3360
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3712
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8433
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2265
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.646e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.676e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e0

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -4.292e-1

DP
type: SiteQuality
SIO_000300: 1.99424e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000335364
ensembl transcript: ENST00000349714
gene symbol: UQCC1
hgvsc: ENST00000349714.5:c.85C>T
hgvsp: ENSP00000335364.6:p.Pro29Ser
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000352161
ensembl transcript: ENST00000359226
gene symbol: UQCC1
hgvsc: ENST00000359226.2:c.85C>T
hgvsp: ENSP00000352161.2:p.Pro29Ser
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 672
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15108
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3181
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7545
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22958
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6604
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3358
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4778
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8432
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27862
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 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: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

DP
type: SiteQuality
SIO_000300: 1.994092e6

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

FS
type: SiteQuality
SIO_000300: 7.04e-1

MQ
type: SiteQuality
SIO_000300: 5.865e1

VQSLOD
type: SiteQuality
SIO_000300: -8.811e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.219e0

QD
type: SiteQuality
SIO_000300: 1.103e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000399713
ensembl transcript: ENST00000424405
gene symbol: UQCC1
hgvsc: ENST00000424405.1:c.77C>T
hgvsp: ENSP00000399713.1:p.Pro26Leu
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380686
ensembl transcript: ENST00000397554
gene symbol: UQCC1
hgvsc: ENST00000397554.1:c.77C>T
hgvsp: ENSP00000380686.1:p.Pro26Leu
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 1706
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22962
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15106
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 672
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 117
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6606
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3180
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7526
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27836
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4779
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8608
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8431
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
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: 16508
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.993885e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 6.967e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.032e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

QD
type: SiteQuality
SIO_000300: 1.384e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000491125
gene symbol: UQCC1
hgvsc: ENST00000491125.1:n.84T>C
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380685
ensembl transcript: ENST00000397553
gene symbol: UQCC1
hgvsc: ENST00000397553.2:c.71T>C
hgvsp: ENSP00000380685.2:p.Leu24Ser
variant of: http://identifiers.org/hgnc/15891

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

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7523
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15109
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22956
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6604
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3180
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8604
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3356
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4779
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8431
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.616e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.556e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.993778e6

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000380688
ensembl transcript: ENST00000397556
gene symbol: UQCC1
hgvsc: ENST00000397556.3:c.-134G>A
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000411024
ensembl transcript: ENST00000457259
gene symbol: UQCC1
hgvsc: ENST00000457259.1:c.63G>A
hgvsp: ENSP00000411024.1:p.Arg22Gln
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 576
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 15106
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7518
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3180
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22960
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6605
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27840
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3354
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4778
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8431
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.891e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.993666e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000363505
ensembl transcript: ENST00000374384
gene symbol: UQCC1
hgvsc: ENST00000374384.2:c.66C>G
hgvsp: ENSP00000363505.2:p.Ser22Arg
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000441316
ensembl transcript: ENST00000540457
gene symbol: UQCC1
hgvsc: ENST00000540457.1:c.-2+17785C>G
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 15109
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6602
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22965
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3180
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7509
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8431
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3354
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3709
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 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: 6612
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.993597e6

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.281e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.24e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000363505
ensembl transcript: ENST00000374384
gene symbol: UQCC1
hgvsc: ENST00000374384.2:c.57A>G
hgvsp: ENST00000374384.2:c.57A>G(p.%3D)
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000363515
ensembl transcript: ENST00000374394
gene symbol: UQCC1
hgvsc: ENST00000374394.3:c.*111A>G
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1707
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6601
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7473
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3179
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 217
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 980
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15110
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22961
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 580
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8430
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3356
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.995771987166032e-5
allele num: 66698
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.993621e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.886e0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

QD
type: SiteQuality
SIO_000300: 1.226e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000445059
ensembl transcript: ENST00000542501
gene symbol: UQCC1
hgvsc: ENST00000542501.1:c.54T>C
hgvsp: ENST00000542501.1:c.54T>C(p.%3D)
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000491125
gene symbol: UQCC1
hgvsc: ENST00000491125.1:n.67T>C
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6600
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22964
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7467
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15119
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1705
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 671
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3178
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 579
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 979
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8423
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3708
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27807
bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349446726841995e-4
allele num: 66694
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.342e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

FS
type: SiteQuality
SIO_000300: 7.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.99345e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000491125
gene symbol: UQCC1
hgvsc: ENST00000491125.1:n.53A>C
variant of: http://identifiers.org/hgnc/15891

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

GenotypeDepth
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 671
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 980
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7419
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6598
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1705
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 22951
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15113
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8588
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4770
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8415
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27746
bin: 6.25e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.99146e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.58e-1

FS
type: SiteQuality
SIO_000300: 1.0496e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.108e0

VQSLOD
type: SiteQuality
SIO_000300: -7.071e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.481e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000411024
ensembl transcript: ENST00000457259
gene symbol: UQCC1
hgvsc: ENST00000457259.1:c.32A>G
hgvsp: ENSP00000411024.1:p.Ser12Gly
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 157
bin: 7.75e1
variant carriers: 38

GenotypeDepth
all individuals: 281
bin: 6.75e1
variant carriers: 32

GenotypeDepth
all individuals: 15089
bin: 3.25e1
variant carriers: 8

GenotypeDepth
all individuals: 637
bin: 5.75e1
variant carriers: 17

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 34

GenotypeDepth
all individuals: 7384
bin: 2.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 1682
bin: 4.75e1
variant carriers: 15

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3157
bin: 4.25e1
variant carriers: 10

GenotypeDepth
all individuals: 22924
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 100
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 9.25e1
variant carriers: 21

GenotypeDepth
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6578
bin: 3.75e1
variant carriers: 6

GenotypeDepth
all individuals: 705
bin: 9.75e1
variant carriers: 181

GenotypeDepth
all individuals: 947
bin: 5.25e1
variant carriers: 14

GenotypeDepth
all individuals: 134
bin: 8.25e1
variant carriers: 38

GenotypeDepth
all individuals: 211
bin: 7.25e1
variant carriers: 25

GenotypeDepth
all individuals: 444
bin: 6.25e1
variant carriers: 24

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

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8480
bin: 9.75e1
variant carriers: 467

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27705
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8581
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4765
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.502325720973501e-5
allele num: 66646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

Latino
type: Population
allele count: 16
allele frequency: 1.386481802426343e-3
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 454
allele frequency: 4.370427416249519e-2
allele num: 10388
num of homozygotes: 9

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.004302e6

QD
type: SiteQuality
SIO_000300: 1.575e1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.84e-2

FS
type: SiteQuality
SIO_000300: 8.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.47e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000491125
gene symbol: UQCC1
hgvsc: ENST00000491125.1:n.47A>G
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 139
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 628
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15165
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 942
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6617
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3181
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23086
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1684
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7391
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 530
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1640
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3712
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 201
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4782
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8091
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3366
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27846
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.976383e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

VQSLOD
type: SiteQuality
SIO_000300: -2.294e0

QD
type: SiteQuality
SIO_000300: 3.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

FS
type: SiteQuality
SIO_000300: 4.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000101019
ensembl transcript: ENST00000495752
gene symbol: UQCC1
hgvsc: ENST00000495752.1:n.108C>A
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 15163
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23078
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7368
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 942
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 529
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6616
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1680
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 628
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 187
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3181
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27846
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3709
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 224
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4779
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8090
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3362
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8618
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.654e1

FS
type: SiteQuality
SIO_000300: 9.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.536e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.762e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.238e0

DP
type: SiteQuality
SIO_000300: 1.975719e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000398531
ensembl transcript: ENST00000438533
gene symbol: UQCC1
hgvsc: ENST00000438533.1:c.25-4T>C
variant of: http://identifiers.org/hgnc/15891

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000101019
ensembl protein: ENSP00000441316
ensembl transcript: ENST00000540457
gene symbol: UQCC1
hgvsc: ENST00000540457.1:c.-2+17740T>C
variant of: http://identifiers.org/hgnc/15891

GenotypeDepth
all individuals: 627
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7280
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 941
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23017
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3152
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1676
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6552
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 341
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15065
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8087
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4764
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 6.942e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

VQSLOD
type: SiteQuality
SIO_000300: -6.664e-1

DP
type: SiteQuality
SIO_000300: 1.969036e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.615e1

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 525
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7270
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22915
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14919
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1672
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6497
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 941
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 628
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8082
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27287
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011050555538827e-5
allele num: 66422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.147e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.962827e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.705e1

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7240
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6465
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 941
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 362
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 627
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1670
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 702
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14812
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3135
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22802
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3323
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8080
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2255
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
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: 8542
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.333e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.957578e6

QD
type: SiteQuality
SIO_000300: 2.003e1

GenotypeDepth
all individuals: 1828
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22024
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 627
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14022
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6229
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 531
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 940
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7194
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1666
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3680
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 670
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8074
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1631
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25405
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4702
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.179245283018868e-4
allele num: 8480
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66100
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

MQRankSum
type: SiteQuality
SIO_000300: -1.774e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.092e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 1.924311e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.142e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeDepth
all individuals: 7223
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4322
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 659
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18997
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11979
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3548
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 937
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3045
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5935
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 627
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7217
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4543
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20439
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3588
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3094
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8057
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51846452866861e-5
allele num: 65856
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.151e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.84544e6

QD
type: SiteQuality
SIO_000300: 1.05e1

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7304
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11713
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3620
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4752
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18696
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5912
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 627
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 937
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3034
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20565
bin: 6.25e1
variant carriers: 0