16-23568458-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568458
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568458
    reference: chr 16
allele count: 2
allele frequency: 9.166743056192135e-5
allele num: 21818
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+68C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+68C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.104C>G
  hgvsp: ENSP00000458604.1:p.Pro35Arg
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.214C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+68C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+68C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+68C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.67G>C
  hgvsp: ENSP00000219638.4:p.Gly23Arg
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+68C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+68C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+68C>G
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34157
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro35Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

16-23568458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568458
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568458
    reference: chr 16
allele count: 1
allele frequency: 4.583371528096068e-5
allele num: 21818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+68C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.104C>T
  hgvsp: ENSP00000458604.1:p.Pro35Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+68C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+68C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+68C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+68C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+68C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+68C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.67G>A
  hgvsp: ENSP00000219638.4:p.Gly23Arg
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.214C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+68C>T
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34157
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro35Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS

16-23568464-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568464
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568464
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 28806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+62T>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.73A>T
  hgvsp: ENSP00000219638.4:p.Ile25Phe
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+62T>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+62T>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.98T>A
  hgvsp: ENSP00000458604.1:p.Met33Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+62T>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.208T>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+62T>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+62T>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+62T>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+62T>A
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32735
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met33Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

16-23568465-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568465
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568465
    reference: chr 16
allele count: 31
allele frequency: 1.047014320453931e-3
allele num: 29608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.74T>C
  hgvsp: ENSP00000219638.4:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+61A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.207A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+61A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+61A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+61A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.97A>G
  hgvsp: ENSP00000458604.1:p.Met33Val
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+61A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+61A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+61A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+61A>G
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32505
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met33Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

16-23568465-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568465
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568465
    reference: chr 16
allele count: 6
allele frequency: 2.026479329910835e-4
allele num: 29608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.97A>C
  hgvsp: ENSP00000458604.1:p.Met33Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+61A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+61A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+61A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.74T>G
  hgvsp: ENSP00000219638.4:p.Ile25Ser
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+61A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.207A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+61A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+61A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+61A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+61A>C
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32505
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met33Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

16-23568467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568467
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568467
    reference: chr 16
allele count: 2
allele frequency: 6.356874960269532e-5
allele num: 31462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+59G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+59G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+59G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+59G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.95G>A
  hgvsp: ENSP00000458604.1:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.76C>T
  hgvsp: ENSP00000219638.4:p.Arg26Cys
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+59G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+59G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+59G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.205G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+59G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg32Gln
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

16-23568469-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568469
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568469
    reference: chr 16
allele count: 1
allele frequency: 2.9049500348594e-5
allele num: 34424
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+57A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+57A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.203A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+57A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+57A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.93A>C
  hgvsp: ENST00000563499.1:c.93A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+57A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.78T>G
  hgvsp: ENST00000219638.4:c.78T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+57A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+57A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+57A>C
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro31Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-23568476-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568476
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568476
    reference: chr 16
allele count: 1
allele frequency: 2.26736803918012e-5
allele num: 44104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.85G>C
  hgvsp: ENSP00000219638.4:p.Glu29Gln
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+50C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+50C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+50C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+50C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+50C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.196C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+50C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.86C>G
  hgvsp: ENSP00000458604.1:p.Ser29Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+50C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+50C>G
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14814
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser29Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

16-23568481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568481
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568481
    reference: chr 16
allele count: 1
allele frequency: 1.990128960356631e-5
allele num: 50248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.81C>T
  hgvsp: ENST00000563499.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.90G>A
  hgvsp: ENST00000219638.4:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+45C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.191C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+45C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+45C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+45C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+45C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+45C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+45C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+45C>T
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro27Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-23568485-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568485
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568484
    reference: chr 16
allele count: 1
allele frequency: 1.841078135356064e-5
allele num: 54316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+40delT
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+40delT
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+40delT
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+40delT
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+40delT
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.186delT
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+40delT
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.95delA
  hgvsp: ENSP00000219638.4:p.Gln32ArgfsTer99
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.76delT
  hgvsp: ENSP00000458604.1:p.Cys26ValfsTer26
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+40delT
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+40delT
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys26ValfsTer26
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: CA
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

16-23568488-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568488
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568488
    reference: chr 16
allele count: 9
allele frequency: 1.582445405633506e-4
allele num: 56874
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+38C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.97G>C
  hgvsp: ENSP00000219638.4:p.Gly33Arg
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+38C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.74C>G
  hgvsp: ENSP00000458604.1:p.Pro25Arg
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.184C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+38C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+38C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+38C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+38C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+38C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+38C>G
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro25Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

16-23568489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568489
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568489
    reference: chr 16
allele count: 1
allele frequency: 1.736111111111111e-5
allele num: 57600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.73C>T
  hgvsp: ENSP00000458604.1:p.Pro25Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+37C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+37C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+37C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.98G>A
  hgvsp: ENSP00000219638.4:p.Gly33Glu
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+37C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+37C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+37C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+37C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+37C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.183C>T
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21019
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro25Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-23568491-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568491
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568491
    reference: chr 16
allele count: 3
allele frequency: 5.10013260344769e-5
allele num: 58822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.181C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+35C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+35C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.100G>C
  hgvsp: ENSP00000219638.4:p.Ala34Pro
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+35C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.71C>G
  hgvsp: ENSP00000458604.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+35C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+35C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+35C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+35C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+35C>G
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21770
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala24Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

16-23568496-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568496
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568496
    reference: chr 16
allele count: 4
allele frequency: 6.37531478116732e-5
allele num: 62742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.105G>C
  hgvsp: ENST00000219638.4:c.105G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+30C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+30C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+30C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.66C>G
  hgvsp: ENST00000563499.1:c.66C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.176C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+30C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+30C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+30C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+30C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+30C>G
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22870
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.66C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

16-23568502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568502
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568502
    reference: chr 16
allele count: 2
allele frequency: 2.984718242597899e-5
allele num: 67008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+24A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+24A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.64-4A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.111T>C
  hgvsp: ENST00000219638.4:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+24A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+24A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+24A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+24A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.170A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+24A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+24A>G
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.64-4A>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-23568513-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568513
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568513
    reference: chr 16
allele count: 1
allele frequency: 1.384083044982699e-5
allele num: 72250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+13G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.64-15G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+13G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+13G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.159G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+13G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.122C>A
  hgvsp: ENSP00000219638.4:p.Ser41Tyr
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+13G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+13G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+13G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+13G>T
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser41Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

16-23568514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568514
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568514
    reference: chr 16
allele count: 1
allele frequency: 1.371441110318723e-5
allele num: 72916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.64-16G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.158G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.123C>T
  hgvsp: ENST00000219638.4:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+12G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+12G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+12G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+12G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+12G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+12G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+12G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+12G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser41Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-23568519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568519
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568519
    reference: chr 16
allele count: 3
allele frequency: 4.006517268089425e-5
allele num: 74878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+7C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+7C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+7C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+7C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+7C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.128G>A
  hgvsp: ENSP00000219638.4:p.Arg43Lys
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+7C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+7C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+7C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.153C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.64-21C>T
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg43Lys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

16-23568523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568523
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568523
    reference: chr 16
allele count: 2
allele frequency: 2.649217156330304e-5
allele num: 75494
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.139+3A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.146+3A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.139+3A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.139+3A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.149A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.139+3A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.132T>C
  hgvsp: ENST00000219638.4:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.139+3A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.139+3A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.139+3A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.64-25A>G
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27912
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.139+3A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

16-23568548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568548
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568548
    reference: chr 16
allele count: 1
allele frequency: 1.36768969856119e-5
allele num: 73116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.64-50G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.124G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.157C>T
  hgvsp: ENSP00000219638.4:p.His53Tyr
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.117G>A
  hgvsp: ENST00000562581.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.117G>A
  hgvsp: ENST00000564501.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.117G>A
  hgvsp: ENST00000563459.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.117G>A
  hgvsp: ENST00000563232.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.117G>A
  hgvsp: ENST00000449606.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.117G>A
  hgvsp: ENST00000564997.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.117G>A
  hgvsp: ENST00000564668.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.124G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His53Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

16-23568550-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568550
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568550
    reference: chr 16
allele count: 1
allele frequency: 1.374646028647623e-5
allele num: 72746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.115G>C
  hgvsp: ENSP00000455789.1:p.Val39Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.122G>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.159C>G
  hgvsp: ENSP00000219638.4:p.His53Gln
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.63+52G>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.115G>C
  hgvsp: ENSP00000395196.1:p.Val39Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.115G>C
  hgvsp: ENSP00000455875.1:p.Val39Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.115G>C
  hgvsp: ENSP00000457107.1:p.Val39Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.115G>C
  hgvsp: ENSP00000456467.1:p.Val39Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.115G>C
  hgvsp: ENSP00000455519.1:p.Val39Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.115G>C
  hgvsp: ENSP00000456218.1:p.Val39Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.122G>C
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val39Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

16-23568551-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568551
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568551
    reference: chr 16
allele count: 1
allele frequency: 1.382819846230433e-5
allele num: 72316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.114A>C
  hgvsp: ENST00000562581.1:c.114A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.114A>C
  hgvsp: ENST00000564997.1:c.114A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.114A>C
  hgvsp: ENST00000563232.1:c.114A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.114A>C
  hgvsp: ENST00000564501.1:c.114A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.114A>C
  hgvsp: ENST00000564668.1:c.114A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.114A>C
  hgvsp: ENST00000449606.1:c.114A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.160T>G
  hgvsp: ENSP00000219638.4:p.Ser54Ala
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.121A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.63+51A>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.114A>C
  hgvsp: ENST00000563459.1:c.114A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.121A>C
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21466
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser54Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

16-23568565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568565
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568565
    reference: chr 16
allele count: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.100G>A
  hgvsp: ENSP00000455789.1:p.Gly34Arg
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.100G>A
  hgvsp: ENSP00000457107.1:p.Gly34Arg
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.100G>A
  hgvsp: ENSP00000456218.1:p.Gly34Arg
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.100G>A
  hgvsp: ENSP00000395196.1:p.Gly34Arg
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.100G>A
  hgvsp: ENSP00000455519.1:p.Gly34Arg
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.100G>A
  hgvsp: ENSP00000455875.1:p.Gly34Arg
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.107G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.100G>A
  hgvsp: ENSP00000456467.1:p.Gly34Arg
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.174C>T
  hgvsp: ENST00000219638.4:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.63+37G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.107G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21015
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly34Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

16-23568581-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568581
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568581
    reference: chr 16
allele count: 1
allele frequency: 1.801671951571058e-5
allele num: 55504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.84C>A
  hgvsp: ENSP00000455789.1:p.Asn28Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.84C>A
  hgvsp: ENSP00000456467.1:p.Asn28Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.84C>A
  hgvsp: ENSP00000395196.1:p.Asn28Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.84C>A
  hgvsp: ENSP00000456218.1:p.Asn28Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.190G>T
  hgvsp: ENSP00000219638.4:p.Val64Phe
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.84C>A
  hgvsp: ENSP00000457107.1:p.Asn28Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.84C>A
  hgvsp: ENSP00000455519.1:p.Asn28Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.91C>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.84C>A
  hgvsp: ENSP00000455875.1:p.Asn28Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.63+21C>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.91C>A
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn28Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

16-23568582-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568582
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568582
    reference: chr 16
allele count: 1
allele frequency: 1.83130058967879e-5
allele num: 54606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.63+20A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.90A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.83A>G
  hgvsp: ENSP00000456467.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.83A>G
  hgvsp: ENSP00000455789.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.191T>C
  hgvsp: ENSP00000219638.4:p.Val64Ala
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.83A>G
  hgvsp: ENSP00000456218.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.83A>G
  hgvsp: ENSP00000395196.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.83A>G
  hgvsp: ENSP00000457107.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.83A>G
  hgvsp: ENSP00000455519.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.90A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.83A>G
  hgvsp: ENSP00000455875.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15712
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn28Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

16-23568589-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568589
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568589
    reference: chr 16
allele count: 2
allele frequency: 4.113364320677882e-5
allele num: 48622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.63+13G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.76G>A
  hgvsp: ENSP00000455875.1:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.76G>A
  hgvsp: ENSP00000457107.1:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.83G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.76G>A
  hgvsp: ENSP00000395196.1:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.198C>T
  hgvsp: ENST00000219638.4:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.76G>A
  hgvsp: ENSP00000455519.1:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.76G>A
  hgvsp: ENSP00000456467.1:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.76G>A
  hgvsp: ENSP00000455789.1:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.76G>A
  hgvsp: ENSP00000456218.1:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.83G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15853
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu26Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

16-23568591-CGCCGTCCTACGGGGCGGCCAGAGGCCGCCGAAGGCCTCTCGCGCTGCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568591
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568543
    reference: chr 16
allele count: 2
allele frequency: 4.483902788987535e-5
allele num: 44604
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsp: ENSP00000456467.1:p.Leu9_Arg24del
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsp: ENSP00000455789.1:p.Leu9_Arg24del
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsp: ENSP00000456218.1:p.Leu9_Arg24del
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsp: ENSP00000395196.1:p.Leu9_Arg24del
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsp: ENSP00000455519.1:p.Leu9_Arg24del
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsp: ENSP00000457107.1:p.Leu9_Arg24del
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsp: ENSP00000455875.1:p.Leu9_Arg24del
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsp: ENSP00000219638.4:p.Pro68_Gln83del
  variant of: http://identifiers.org/hgnc/30565
canonical: false
consequence: splice donor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: CGCCGTCCTACGGGGCGGCCAGAGGCCGCCGAAGGCCTCTCGCGCTGCA
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

16-23568592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568592
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568592
    reference: chr 16
allele count: 1
allele frequency: 2.239842315101017e-5
allele num: 44646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.73C>T
  hgvsp: ENSP00000456218.1:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.80C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.73C>T
  hgvsp: ENSP00000455875.1:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.73C>T
  hgvsp: ENSP00000455789.1:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.73C>T
  hgvsp: ENSP00000457107.1:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.73C>T
  hgvsp: ENSP00000455519.1:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.73C>T
  hgvsp: ENSP00000395196.1:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.80C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.73C>T
  hgvsp: ENSP00000456467.1:p.Arg25Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.201G>A
  hgvsp: ENST00000219638.4:c.201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.63+10C>T
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15555
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg25Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/16-23568597-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568597
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568597
    reference: chr 16
allele count: 2
allele frequency: 4.834888555818788e-5
allele num: 41366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.68G>T
  hgvsp: ENSP00000455519.1:p.Gly23Val
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.68G>T
  hgvsp: ENSP00000456467.1:p.Gly23Val
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.68G>T
  hgvsp: ENSP00000395196.1:p.Gly23Val
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.75G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.68G>T
  hgvsp: ENSP00000457107.1:p.Gly23Val
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.75G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.63+5G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.206C>A
  hgvsp: ENSP00000219638.4:p.Ser69Tyr
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.68G>T
  hgvsp: ENSP00000456218.1:p.Gly23Val
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.68G>T
  hgvsp: ENSP00000455789.1:p.Gly23Val
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.68G>T
  hgvsp: ENSP00000455875.1:p.Gly23Val
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly23Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

16-23568602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568602
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568602
    reference: chr 16
allele count: 3
allele frequency: 8.22143052891203e-5
allele num: 36490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.70C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.70C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.63C>T
  hgvsp: ENST00000564997.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.63C>T
  hgvsp: ENST00000449606.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.63C>T
  hgvsp: ENST00000563459.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.63C>T
  hgvsp: ENST00000564668.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.63C>T
  hgvsp: ENST00000562581.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.63C>T
  hgvsp: ENST00000563232.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.63C>T
  hgvsp: ENST00000563499.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.211G>A
  hgvsp: ENSP00000219638.4:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.63C>T
  hgvsp: ENST00000564501.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14158
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27087
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly71Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

16-23568602-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568602
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568602
    reference: chr 16
allele count: 3
allele frequency: 8.22143052891203e-5
allele num: 36490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.63C>A
  hgvsp: ENST00000563232.1:c.63C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.63C>A
  hgvsp: ENST00000563459.1:c.63C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.63C>A
  hgvsp: ENST00000564668.1:c.63C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.63C>A
  hgvsp: ENST00000562581.1:c.63C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.63C>A
  hgvsp: ENST00000564501.1:c.63C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.70C>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.70C>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.63C>A
  hgvsp: ENST00000563499.1:c.63C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.211G>T
  hgvsp: ENSP00000219638.4:p.Gly71Trp
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.63C>A
  hgvsp: ENST00000449606.1:c.63C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.63C>A
  hgvsp: ENST00000564997.1:c.63C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14158
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27087
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly71Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

16-23568602-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568602
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568602
    reference: chr 16
allele count: 2
allele frequency: 5.480953685941354e-5
allele num: 36490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.63C>G
  hgvsp: ENST00000563499.1:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.211G>C
  hgvsp: ENSP00000219638.4:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.63C>G
  hgvsp: ENST00000564997.1:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.70C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.63C>G
  hgvsp: ENST00000564668.1:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.63C>G
  hgvsp: ENST00000562581.1:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.63C>G
  hgvsp: ENST00000449606.1:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.63C>G
  hgvsp: ENST00000563232.1:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.63C>G
  hgvsp: ENST00000563459.1:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.63C>G
  hgvsp: ENST00000564501.1:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.70C>G
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14158
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly71Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

16-23568608-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568608
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568608
    reference: chr 16
allele count: 1
allele frequency: 3.562014675500463e-5
allele num: 28074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.57C>G
  hgvsp: ENST00000562581.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.217G>C
  hgvsp: ENSP00000219638.4:p.Ala73Pro
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.57C>G
  hgvsp: ENST00000563499.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.57C>G
  hgvsp: ENST00000564668.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.57C>G
  hgvsp: ENST00000449606.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.57C>G
  hgvsp: ENST00000564997.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.64C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.57C>G
  hgvsp: ENST00000564501.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.57C>G
  hgvsp: ENST00000563459.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.57C>G
  hgvsp: ENST00000563232.1:c.57C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.64C>G
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala73Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-23568612-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568612
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568612
    reference: chr 16
allele count: 3
allele frequency: 1.081081081081081e-4
allele num: 27750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.221G>C
  hgvsp: ENSP00000219638.4:p.Arg74Thr
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.53C>G
  hgvsp: ENSP00000458604.1:p.Ser18Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.53C>G
  hgvsp: ENSP00000455789.1:p.Ser18Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.53C>G
  hgvsp: ENSP00000455519.1:p.Ser18Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.53C>G
  hgvsp: ENSP00000456467.1:p.Ser18Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.53C>G
  hgvsp: ENSP00000457107.1:p.Ser18Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.60C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.53C>G
  hgvsp: ENSP00000456218.1:p.Ser18Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.60C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.53C>G
  hgvsp: ENSP00000455875.1:p.Ser18Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.53C>G
  hgvsp: ENSP00000395196.1:p.Ser18Cys
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11489
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser18Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

16-23568614-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568614
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568614
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 24312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.51C>G
  hgvsp: ENST00000564997.1:c.51C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.51C>G
  hgvsp: ENST00000564501.1:c.51C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.223G>C
  hgvsp: ENSP00000219638.4:p.Gly75Arg
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.51C>G
  hgvsp: ENST00000449606.1:c.51C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.51C>G
  hgvsp: ENST00000562581.1:c.51C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.51C>G
  hgvsp: ENST00000563459.1:c.51C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.51C>G
  hgvsp: ENST00000563499.1:c.51C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.58C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.58C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.51C>G
  hgvsp: ENST00000564668.1:c.51C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.51C>G
  hgvsp: ENST00000563232.1:c.51C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27642
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly75Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

16-23568620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568620
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568620
    reference: chr 16
allele count: 1
allele frequency: 4.24844931599966e-5
allele num: 23538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.52G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.45G>A
  hgvsp: ENST00000564668.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.45G>A
  hgvsp: ENST00000563499.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.229C>T
  hgvsp: ENSP00000219638.4:p.Arg77Ter
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.45G>A
  hgvsp: ENST00000562581.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.45G>A
  hgvsp: ENST00000564997.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.45G>A
  hgvsp: ENST00000563459.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.45G>A
  hgvsp: ENST00000449606.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.45G>A
  hgvsp: ENST00000564501.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.45G>A
  hgvsp: ENST00000563232.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.52G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28221
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg77Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

16-23568621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568621
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568621
    reference: chr 16
allele count: 2
allele frequency: 8.600670852326481e-5
allele num: 23254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.44C>T
  hgvsp: ENSP00000456218.1:p.Ser15Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.44C>T
  hgvsp: ENSP00000458604.1:p.Ser15Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.44C>T
  hgvsp: ENSP00000455789.1:p.Ser15Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.230G>A
  hgvsp: ENSP00000219638.4:p.Arg77Gln
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.51C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.51C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.44C>T
  hgvsp: ENSP00000455519.1:p.Ser15Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.44C>T
  hgvsp: ENSP00000456467.1:p.Ser15Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.44C>T
  hgvsp: ENSP00000395196.1:p.Ser15Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.44C>T
  hgvsp: ENSP00000457107.1:p.Ser15Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.44C>T
  hgvsp: ENSP00000455875.1:p.Ser15Leu
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser15Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

16-23568622-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568622
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568622
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 22900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.43T>C
  hgvsp: ENSP00000457107.1:p.Ser15Pro
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.43T>C
  hgvsp: ENSP00000458604.1:p.Ser15Pro
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.43T>C
  hgvsp: ENSP00000455875.1:p.Ser15Pro
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.43T>C
  hgvsp: ENSP00000395196.1:p.Ser15Pro
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.231A>G
  hgvsp: ENST00000219638.4:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.43T>C
  hgvsp: ENSP00000455789.1:p.Ser15Pro
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.50T>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.43T>C
  hgvsp: ENSP00000456218.1:p.Ser15Pro
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.43T>C
  hgvsp: ENSP00000456467.1:p.Ser15Pro
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.43T>C
  hgvsp: ENSP00000455519.1:p.Ser15Pro
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.50T>C
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27948
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser15Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

16-23568624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568624
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568624
    reference: chr 16
allele count: 3
allele frequency: 1.375894331315355e-4
allele num: 21804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.41C>T
  hgvsp: ENSP00000458604.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.41C>T
  hgvsp: ENSP00000455789.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.41C>T
  hgvsp: ENSP00000455875.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.41C>T
  hgvsp: ENSP00000455519.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.48C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.41C>T
  hgvsp: ENSP00000457107.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.41C>T
  hgvsp: ENSP00000456218.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.48C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.233G>A
  hgvsp: ENSP00000219638.4:p.Arg78Lys
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.41C>T
  hgvsp: ENSP00000456467.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.41C>T
  hgvsp: ENSP00000395196.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27558
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro14Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

16-23568625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568625
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568625
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 21564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.40C>T
  hgvsp: ENSP00000456218.1:p.Pro14Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.40C>T
  hgvsp: ENSP00000457107.1:p.Pro14Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.40C>T
  hgvsp: ENSP00000456467.1:p.Pro14Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.40C>T
  hgvsp: ENSP00000455875.1:p.Pro14Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.40C>T
  hgvsp: ENSP00000455519.1:p.Pro14Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.40C>T
  hgvsp: ENSP00000395196.1:p.Pro14Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.40C>T
  hgvsp: ENSP00000458604.1:p.Pro14Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.40C>T
  hgvsp: ENSP00000455789.1:p.Pro14Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.47C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.47C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.234G>A
  hgvsp: ENST00000219638.4:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27525
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro14Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

16-23568629-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568629
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568629
    reference: chr 16
allele count: 1
allele frequency: 4.759638267491671e-5
allele num: 21010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.36G>C
  hgvsp: ENSP00000456467.1:p.Glu12Asp
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.36G>C
  hgvsp: ENSP00000455519.1:p.Glu12Asp
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.43G>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.36G>C
  hgvsp: ENSP00000395196.1:p.Glu12Asp
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.36G>C
  hgvsp: ENSP00000455875.1:p.Glu12Asp
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.36G>C
  hgvsp: ENSP00000457107.1:p.Glu12Asp
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.36G>C
  hgvsp: ENSP00000456218.1:p.Glu12Asp
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.36G>C
  hgvsp: ENSP00000458604.1:p.Glu12Asp
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.36G>C
  hgvsp: ENSP00000455789.1:p.Glu12Asp
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.238C>G
  hgvsp: ENSP00000219638.4:p.Leu80Val
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.43G>C
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27006
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu12Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-23568634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568634
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568634
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 19618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.31C>T
  hgvsp: ENSP00000456467.1:p.Arg11Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.31C>T
  hgvsp: ENSP00000395196.1:p.Arg11Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.31C>T
  hgvsp: ENSP00000455875.1:p.Arg11Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.31C>T
  hgvsp: ENSP00000457107.1:p.Arg11Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.31C>T
  hgvsp: ENSP00000455789.1:p.Arg11Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.31C>T
  hgvsp: ENSP00000458604.1:p.Arg11Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.31C>T
  hgvsp: ENSP00000456218.1:p.Arg11Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.31C>T
  hgvsp: ENSP00000455519.1:p.Arg11Cys
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.38C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.38C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.243G>A
  hgvsp: ENST00000219638.4:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25982
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg11Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

16-23568634-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568634
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568634
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 19618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.38C>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.31C>A
  hgvsp: ENSP00000458604.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.31C>A
  hgvsp: ENSP00000455789.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.38C>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.31C>A
  hgvsp: ENSP00000455519.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.31C>A
  hgvsp: ENSP00000457107.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.31C>A
  hgvsp: ENSP00000456218.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.31C>A
  hgvsp: ENSP00000456467.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.243G>T
  hgvsp: ENST00000219638.4:c.243G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.31C>A
  hgvsp: ENSP00000395196.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.31C>A
  hgvsp: ENSP00000455875.1:p.Arg11Ser
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25982
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg11Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/16-23568635-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568635
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568635
    reference: chr 16
allele count: 1
allele frequency: 5.269259142164612e-5
allele num: 18978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.30G>T
  hgvsp: ENSP00000455519.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.30G>T
  hgvsp: ENSP00000455789.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.30G>T
  hgvsp: ENSP00000457107.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.30G>T
  hgvsp: ENSP00000455875.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.30G>T
  hgvsp: ENSP00000456467.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.37G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.37G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.30G>T
  hgvsp: ENSP00000456218.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.30G>T
  hgvsp: ENSP00000395196.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.30G>T
  hgvsp: ENSP00000458604.1:p.Gln10His
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.244C>A
  hgvsp: ENSP00000219638.4:p.Leu82Met
  variant of: http://identifiers.org/hgnc/30565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln10His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

16-23568635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568635
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568635
    reference: chr 16
allele count: 1
allele frequency: 5.269259142164612e-5
allele num: 18978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.30G>A
  hgvsp: ENST00000562581.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.30G>A
  hgvsp: ENST00000563499.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.37G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.30G>A
  hgvsp: ENST00000449606.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.30G>A
  hgvsp: ENST00000564997.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.30G>A
  hgvsp: ENST00000564668.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.30G>A
  hgvsp: ENST00000564501.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.244C>T
  hgvsp: ENST00000219638.4:c.244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.30G>A
  hgvsp: ENST00000563232.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.30G>A
  hgvsp: ENST00000563459.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.37G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln10Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

16-23568637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568637
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568637
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 19358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.246G>A
  hgvsp: ENST00000219638.4:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.35C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.28C>T
  hgvsp: ENSP00000455519.1:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.28C>T
  hgvsp: ENSP00000458604.1:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.28C>T
  hgvsp: ENSP00000456467.1:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.28C>T
  hgvsp: ENSP00000457107.1:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.28C>T
  hgvsp: ENSP00000455875.1:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.28C>T
  hgvsp: ENSP00000455789.1:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.28C>T
  hgvsp: ENSP00000456218.1:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.28C>T
  hgvsp: ENSP00000395196.1:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.35C>T
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln10Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-23568640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568640
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568640
    reference: chr 16
allele count: 1
allele frequency: 5.172770535899027e-5
allele num: 19332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.32C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.25C>T
  hgvsp: ENST00000563232.1:c.25C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.25C>T
  hgvsp: ENST00000449606.1:c.25C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.32C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.25C>T
  hgvsp: ENST00000564997.1:c.25C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.249G>A
  hgvsp: ENST00000219638.4:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.25C>T
  hgvsp: ENST00000564501.1:c.25C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.25C>T
  hgvsp: ENST00000562581.1:c.25C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.25C>T
  hgvsp: ENST00000564668.1:c.25C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.25C>T
  hgvsp: ENST00000563499.1:c.25C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.25C>T
  hgvsp: ENST00000563459.1:c.25C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu9Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

16-23568649-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568649
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568649
    reference: chr 16
allele count: 234
allele frequency: 1.246006389776358e-2
allele num: 18780
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.258T>C
  hgvsp: ENST00000219638.4:c.258T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.16A>G
  hgvsp: ENSP00000456467.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.16A>G
  hgvsp: ENSP00000457107.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.23A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.16A>G
  hgvsp: ENSP00000395196.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.16A>G
  hgvsp: ENSP00000458604.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.16A>G
  hgvsp: ENSP00000455519.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.16A>G
  hgvsp: ENSP00000456218.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.16A>G
  hgvsp: ENSP00000455789.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.23A>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.16A>G
  hgvsp: ENSP00000455875.1:p.Arg6Gly
  variant of: http://identifiers.org/hgnc/29419
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 26504
  bin: 2.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 20686
  bin: 7.5e0
  variant carriers: 240
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 1.25e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg6Gly
num of homozygotes: 4
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-23568653-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568653
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568653
    reference: chr 16
allele count: 1
allele frequency: 5.444843732984864e-5
allele num: 18366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.12C>G
  hgvsp: ENST00000564501.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.262G>C
  hgvsp: ENSP00000219638.4:p.Glu88Gln
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.12C>G
  hgvsp: ENST00000449606.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.12C>G
  hgvsp: ENST00000562581.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.12C>G
  hgvsp: ENST00000564668.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.12C>G
  hgvsp: ENST00000564997.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.19C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.12C>G
  hgvsp: ENST00000563459.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.19C>G
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.12C>G
  hgvsp: ENST00000563232.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.12C>G
  hgvsp: ENST00000563499.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu88Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

16-23568655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568655
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568655
    reference: chr 16
allele count: 1
allele frequency: 5.576000892160143e-5
allele num: 17934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.10C>T
  hgvsp: ENSP00000455789.1:p.Leu4Phe
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.10C>T
  hgvsp: ENSP00000455519.1:p.Leu4Phe
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.17C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.10C>T
  hgvsp: ENSP00000457107.1:p.Leu4Phe
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.17C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.10C>T
  hgvsp: ENSP00000395196.1:p.Leu4Phe
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.10C>T
  hgvsp: ENSP00000456467.1:p.Leu4Phe
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.10C>T
  hgvsp: ENSP00000458604.1:p.Leu4Phe
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.10C>T
  hgvsp: ENSP00000456218.1:p.Leu4Phe
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.10C>T
  hgvsp: ENSP00000455875.1:p.Leu4Phe
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.264G>A
  hgvsp: ENST00000219638.4:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18248
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu4Phe
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-23568656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568656
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568656
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 18022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.265C>T
  hgvsp: ENSP00000219638.4:p.Arg89Cys
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.9G>A
  hgvsp: ENST00000449606.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.9G>A
  hgvsp: ENST00000564668.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.9G>A
  hgvsp: ENST00000562581.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.9G>A
  hgvsp: ENST00000563232.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.9G>A
  hgvsp: ENST00000564997.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.9G>A
  hgvsp: ENST00000563499.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.9G>A
  hgvsp: ENST00000563459.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.16G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.9G>A
  hgvsp: ENST00000564501.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.16G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28987
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg89Cys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

16-23568665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568665
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568665
    reference: chr 16
allele count: 1
allele frequency: 5.779678649867068e-5
allele num: 17302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455519
  ensembl transcript: ENST00000562581
  gene symbol: EARS2
  hgvsc: ENST00000562581.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456467
  ensembl transcript: ENST00000563459
  gene symbol: EARS2
  hgvsc: ENST00000563459.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000456218
  ensembl transcript: ENST00000563232
  gene symbol: EARS2
  hgvsc: ENST00000563232.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.274G>A
  hgvsp: ENSP00000219638.4:p.Val92Met
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000562799
  gene symbol: EARS2
  hgvsc: ENST00000562799.1:n.7C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103356
  ensembl transcript: ENST00000561859
  gene symbol: EARS2
  hgvsc: ENST00000561859.1:n.7C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000458604
  ensembl transcript: ENST00000563499
  gene symbol: EARS2
  hgvsc: ENST00000563499.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val92Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

16-23568683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568683
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568683
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 14988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455875
  ensembl transcript: ENST00000564997
  gene symbol: EARS2
  hgvsc: ENST00000564997.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.292C>T
  hgvsp: ENSP00000219638.4:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-381C>T
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000455789
  ensembl transcript: ENST00000564668
  gene symbol: EARS2
  hgvsc: ENST00000564668.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33839
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg98Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

16-23568692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568692
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568692
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 13944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.301C>T
  hgvsp: ENSP00000219638.4:p.Leu101Phe
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-372C>T
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32657
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu101Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

16-23568693-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568693
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568692
    reference: chr 16
allele count: 7
allele frequency: 5.024404249210451e-4
allele num: 13932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.305delC
  hgvsp: ENSP00000219638.4:p.Pro102LeufsTer29
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.-30delG
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-368delC
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-30delG
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro102LeufsTer29
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: TC
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

16-23568694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568694
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568694
    reference: chr 16
allele count: 12
allele frequency: 8.683068017366136e-4
allele num: 13820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.303C>T
  hgvsp: ENST00000219638.4:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-370C>T
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000395196
  ensembl transcript: ENST00000449606
  gene symbol: EARS2
  hgvsc: ENST00000449606.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32314
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31109
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu101Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

16-23568698-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568698
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568698
    reference: chr 16
allele count: 38
allele frequency: 2.785923753665689e-3
allele num: 13640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.307G>C
  hgvsp: ENSP00000219638.4:p.Ala103Pro
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-366G>C
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-34C>G
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31592
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30357
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5019
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Ala103Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-23568711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568711
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568711
    reference: chr 16
allele count: 1
allele frequency: 7.830853563038371e-5
allele num: 12770
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-353G>A
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.320G>A
  hgvsp: ENSP00000219638.4:p.Gly107Glu
  variant of: http://identifiers.org/hgnc/30565
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly107Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

16-23568712-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568712
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568712
    reference: chr 16
allele count: 18
allele frequency: 1.417769376181475e-3
allele num: 12696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-48C>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.321G>T
  hgvsp: ENST00000219638.4:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-352G>T
  variant of: http://identifiers.org/hgnc/30565
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23837
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly107Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

16-23568729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568729
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568729
    reference: chr 16
allele count: 1
allele frequency: 8.599931200550395e-5
allele num: 11628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.338C>T
  hgvsp: ENSP00000219638.4:p.Ser113Leu
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-335C>T
  variant of: http://identifiers.org/hgnc/30565
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16622
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser113Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

16-23568742-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568742
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568742
    reference: chr 16
allele count: 2
allele frequency: 1.8758206715438e-4
allele num: 10662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-78T>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.351A>T
  hgvsp: ENST00000219638.4:c.351A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-322A>T
  variant of: http://identifiers.org/hgnc/30565
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12918
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr117Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

16-23568744-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568744
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568744
    reference: chr 16
allele count: 2
allele frequency: 1.893939393939394e-4
allele num: 10560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-80G>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.353C>G
  hgvsp: ENSP00000219638.4:p.Ala118Gly
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-320C>G
  variant of: http://identifiers.org/hgnc/30565
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala118Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

16-23568744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568744
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568744
    reference: chr 16
allele count: 2
allele frequency: 1.893939393939394e-4
allele num: 10560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-80G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.353C>T
  hgvsp: ENSP00000219638.4:p.Ala118Val
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-320C>T
  variant of: http://identifiers.org/hgnc/30565
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala118Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-23568745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568745
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568745
    reference: chr 16
allele count: 2
allele frequency: 1.895016107636915e-4
allele num: 10554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.354C>T
  hgvsp: ENST00000219638.4:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-319C>T
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-81G>A
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13414
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala118Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

16-23568751-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568751
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568751
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 9878
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.360A>G
  hgvsp: ENST00000219638.4:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-87T>C
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-313A>G
  variant of: http://identifiers.org/hgnc/30565
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11743
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala120Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

16-23568780-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568780
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568780
    reference: chr 16
allele count: 15
allele frequency: 2.170767004341534e-3
allele num: 6910
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-284T>G
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.389T>G
  hgvsp: ENSP00000219638.4:p.Leu130Arg
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-116A>C
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7536
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu130Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

16-23568789-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568789
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568788
    reference: chr 16
allele count: 1
allele frequency: 1.616553507921112e-4
allele num: 6186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.399delT
  hgvsp: ENSP00000219638.4:p.Thr135ArgfsTer49
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-274delT
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-126delA
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7603
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr135ArgfsTer49
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: AT
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/16-23568798-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568798
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568798
    reference: chr 16
allele count: 19
allele frequency: 3.728414442700157e-3
allele num: 5096
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-266C>A
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.407C>A
  hgvsp: ENSP00000219638.4:p.Pro136His
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-134G>T
  variant of: http://identifiers.org/hgnc/29419
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7586
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 2
hgvs: p.Pro136His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

16-23568798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568798
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568798
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 5096
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-266C>T
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-134G>A
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.407C>T
  hgvsp: ENSP00000219638.4:p.Pro136Leu
  variant of: http://identifiers.org/hgnc/30565
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7586
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro136Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/16-23568801-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23568801
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 23568801
    reference: chr 16
allele count: 1
allele frequency: 2.039983680130559e-4
allele num: 4902
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000379217
  ensembl transcript: ENST00000395878
  gene symbol: UBFD1
  hgvsc: ENST00000395878.3:c.-263C>A
  variant of: http://identifiers.org/hgnc/30565
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103356
  ensembl protein: ENSP00000457107
  ensembl transcript: ENST00000564501
  gene symbol: EARS2
  hgvsc: ENST00000564501.1:c.-137G>T
  variant of: http://identifiers.org/hgnc/29419
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103353
  ensembl protein: ENSP00000219638
  ensembl transcript: ENST00000219638
  gene symbol: UBFD1
  hgvsc: ENST00000219638.4:c.410C>A
  hgvsp: ENSP00000219638.4:p.Pro137His
  variant of: http://identifiers.org/hgnc/30565
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro137His
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 845
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12084
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1426
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 9.074410163339383e-4
allele num: 2204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13140
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

FS
type: SiteQuality
SIO_000300: 2.493e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

DP
type: SiteQuality
SIO_000300: 4.78868e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12084
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.610350076103501e-5
allele num: 13140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1426
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 4.78868e5

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

FS
type: SiteQuality
SIO_000300: 2.493e0

GenotypeQuality
all individuals: 31867
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10435
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17640
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 6.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.046e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 5.33022e5

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 221
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10174
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31624
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 272
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 47
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 6.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18096
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.753739930955121e-4
allele num: 1738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

African
type: Population
allele count: 30
allele frequency: 1.048951048951049e-2
allele num: 2860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.40898e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

GenotypeQuality
all individuals: 329
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10174
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31624
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 654
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.150747986191024e-3
allele num: 1738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1820
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.398601398601399e-3
allele num: 2860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18096
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

DP
type: SiteQuality
SIO_000300: 5.40898e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.373e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1069
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9784
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30815
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.037236801161705e-4
allele num: 19282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3172
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

QD
type: SiteQuality
SIO_000300: 9.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

FS
type: SiteQuality
SIO_000300: 1.544e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 5.60314e5

GenotypeQuality
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9338
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10408
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30178
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.702341766199567e-5
allele num: 21266
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 5.82933e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.242e0

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

QD
type: SiteQuality
SIO_000300: 1.428e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 1479
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8265
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14820
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.633456870866943e-5
allele num: 27522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4128
num of homozygotes: 0

Other
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: 2440
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.69e-2

DP
type: SiteQuality
SIO_000300: 6.6265e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7770
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24776
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17802
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 437
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.185322036057845e-5
allele num: 31394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e-1

FS
type: SiteQuality
SIO_000300: 6.075e0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

DP
type: SiteQuality
SIO_000300: 7.1543e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

GenotypeQuality
all individuals: 859
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23262
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1213
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7416
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 171
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19606
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.944467345857134e-5
allele num: 33962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4926
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.76e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

MQ
type: SiteQuality
SIO_000300: 5.73e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 7.47079e5

GenotypeQuality
all individuals: 688
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22394
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 632
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1259
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7282
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 959
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1162
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 3.08641975308642e-3
allele num: 324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.629362756136005e-5
allele num: 35528
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 1.252609603340292e-3
allele num: 4790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5096
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
SIO_000300: 7.70729e5

FS
type: SiteQuality
SIO_000300: 1.284e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

GenotypeQuality
all individuals: 592
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 559
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20997
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7246
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.781950703833528e-5
allele num: 35946
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3036
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.7555e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.582e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

GenotypeQuality
all individuals: 665
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7058
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21366
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 152
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4634
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 7.953340402969247e-4
allele num: 3772
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.25e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 4.353e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

DP
type: SiteQuality
SIO_000300: 7.87242e5

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

GenotypeQuality
all individuals: 375
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 888
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6826
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 778
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.562919678097289e-5
allele num: 39018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 6.105006105006105e-4
allele num: 4914
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4108
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.2403e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.183e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

GenotypeQuality
all individuals: 598
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6530
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 614
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18863
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 953
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25386
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4452
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.734906315058987e-4
allele num: 5764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41502
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.912777352716144e-4
allele num: 5228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3426
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.36e-1

DP
type: SiteQuality
SIO_000300: 8.61756e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.413e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

GenotypeQuality
all individuals: 405
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 855
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6027
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28223
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.019386106623587e-4
allele num: 4952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.587e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

FS
type: SiteQuality
SIO_000300: 3.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

DP
type: SiteQuality
SIO_000300: 9.12823e5

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
all individuals: 601
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6005
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 719
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28822
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17061
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.237036374211445e-5
allele num: 44702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.355e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 9.20437e5

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.709e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

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

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

GenotypeQuality
all individuals: 16732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5760
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 227
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.554511688879179e-5
allele num: 45770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3878
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 9.38053e5

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

FS
type: SiteQuality
SIO_000300: 3.458e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
all individuals: 221
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5632
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16841
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29938
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46060
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.148614609571788e-4
allele num: 6352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.591e0

MQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

FS
type: SiteQuality
SIO_000300: 6.31e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

DP
type: SiteQuality
SIO_000300: 9.4147e5

QD
type: SiteQuality
SIO_000300: 1.081e1

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

GenotypeDepth
all individuals: 1851
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4922
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 672
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 477
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.243359655419957e-5
allele num: 44576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3760
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.861e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.961e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 9.00239e5

QD
type: SiteQuality
SIO_000300: 6.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

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

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

GenotypeQuality
all individuals: 1236
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 286
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4878
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 700
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.750700280112045e-4
allele num: 5712
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

DP
type: SiteQuality
SIO_000300: 8.93119e5

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

FS
type: SiteQuality
SIO_000300: 1.494e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

QD
type: SiteQuality
SIO_000300: 1.186e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
all individuals: 1284
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4882
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22571
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1332
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24005
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.887504718761797e-4
allele num: 5298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3698
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

DP
type: SiteQuality
SIO_000300: 8.8613e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.435e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

QD
type: SiteQuality
SIO_000300: 5.34e0

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
all individuals: 383
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27916
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5224
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17819
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40392
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.538071065989848e-3
allele num: 394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 4.692e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 8.05625e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

QD
type: SiteQuality
SIO_000300: 6.99e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

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

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

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7471
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2324
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 889
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4890
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.180549498473615e-4
allele num: 4586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.911e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 5.74e0

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 6.57891e5

VQSLOD
type: SiteQuality
SIO_000300: -1.983e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

GenotypeDepth
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1982
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7768
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34192
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.030486696163404e-5
allele num: 32998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4818
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.929e0

VQSLOD
type: SiteQuality
SIO_000300: -2.197e0

DP
type: SiteQuality
SIO_000300: 6.46535e5

FS
type: SiteQuality
SIO_000300: 9.792e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 3.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

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

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

GenotypeQuality
all individuals: 5435
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34452
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9413
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.038772213247173e-4
allele num: 2476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4286
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.431906614785992e-4
allele num: 4112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.539e0

QD
type: SiteQuality
SIO_000300: 8.35e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 5.92981e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.557e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.775e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

GenotypeQuality
all individuals: 1980
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10624
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 263
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1396
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.076142131979696e-4
allele num: 3940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3912
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.545e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.45e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.133e1

DP
type: SiteQuality
SIO_000300: 5.61481e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

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

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

GenotypeQuality
all individuals: 636
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10672
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1370
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3946
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33859
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.464285714285714e-4
allele num: 2240
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3684
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.103e0

QD
type: SiteQuality
SIO_000300: 5.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.86e-1

FS
type: SiteQuality
SIO_000300: 1.1901e1

DP
type: SiteQuality
SIO_000300: 5.60047e5

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

GenotypeDepth
all individuals: 15059
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2260
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11936
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33887
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.107012565869477e-5
allele num: 24670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

FS
type: SiteQuality
SIO_000300: 1.367e0

QD
type: SiteQuality
SIO_000300: 1.495e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.865e-1

DP
type: SiteQuality
SIO_000300: 5.31334e5

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

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

GenotypeQuality
all individuals: 721
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13632
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 19
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21560
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 9.457755359394704e-4
allele num: 3172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3660
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.165e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

DP
type: SiteQuality
SIO_000300: 4.9475e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.710000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

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

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

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13632
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 902
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.152585119798235e-4
allele num: 3172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21560
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 7.220216606498195e-4
allele num: 2770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.165e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

DP
type: SiteQuality
SIO_000300: 4.9475e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.710000000000001e-2

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

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

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13632
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 5.46448087431694e-4
allele num: 3660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.710000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.9475e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

QD
type: SiteQuality
SIO_000300: 1.165e1

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

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

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

GenotypeQuality
all individuals: 2490
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4489
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15593
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27427
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.005284650492433e-5
allele num: 16652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.092e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.622e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 4.47421e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.929e1

GenotypeDepth
all individuals: 1398
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27539
bin: 7.5e0
variant carriers: 1

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

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29064
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2331
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16371
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.845472440944882e-4
allele num: 16256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.079e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 4.37847e5

FS
type: SiteQuality
SIO_000300: 6.524e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.61e-2

QD
type: SiteQuality
SIO_000300: 1.272e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

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

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

GenotypeQuality
all individuals: 782
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26873
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4682
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17222
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2098
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1182
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.236e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.87e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 4.22288e5

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

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

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30182
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 980
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 17961
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1840
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1910
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.334604664808566e-5
allele num: 13634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1192
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 4.19427e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.031e1

VQSLOD
type: SiteQuality
SIO_000300: -2.535e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 2.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.86e-2

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

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

GenotypeQuality
all individuals: 68
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 928
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1860
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: 2
allele frequency: 5.817335660267597e-4
allele num: 3438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1126
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.91e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 4.17971e5

QD
type: SiteQuality
SIO_000300: 1.118e1

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

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

GenotypeQuality
all individuals: 74
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2300
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18645
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29978
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1391
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3418
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.91e-2

QD
type: SiteQuality
SIO_000300: 8.52e0

VQSLOD
type: SiteQuality
SIO_000300: -1.447e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.13659e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
all individuals: 1141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28734
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19345
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 884
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 478
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 8.615738081562321e-4
allele num: 3482
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.05783e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.143e1

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

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

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

GenotypeQuality
all individuals: 1654
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 915
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28679
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19466
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 946
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

VQSLOD
type: SiteQuality
SIO_000300: -1.443e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

DP
type: SiteQuality
SIO_000300: 4.04549e5

FS
type: SiteQuality
SIO_000300: 3.646e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 8.210000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeDepth
all individuals: 291
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20185
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1422
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.01298e5

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.562e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.817e-1

FS
type: SiteQuality
SIO_000300: 1.0285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.26e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.195e1

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

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

GenotypeQuality
all individuals: 1860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1442
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21630
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26595
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.94029e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

FS
type: SiteQuality
SIO_000300: 7.162e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.914e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.63e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.89e0

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

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

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26595
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21630
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1155
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.89e0

VQSLOD
type: SiteQuality
SIO_000300: -8.914e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.162e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.63e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

DP
type: SiteQuality
SIO_000300: 3.94029e5

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

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

GenotypeQuality
all individuals: 124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22364
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2937
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25066
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1312
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.87783e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 4.473e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.589e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

QD
type: SiteQuality
SIO_000300: 1.225e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25066
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2937
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22364
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1471
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 6.25e1
variant carriers: 0

European (Finnish)
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: 4328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.013376570733685e-4
allele num: 9868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-2

DP
type: SiteQuality
SIO_000300: 3.87783e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

FS
type: SiteQuality
SIO_000300: 4.473e0

VQSLOD
type: SiteQuality
SIO_000300: -1.589e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeDepth
all individuals: 6790
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22459
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25918
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 341
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

VQSLOD
type: SiteQuality
SIO_000300: -1.031e0

DP
type: SiteQuality
SIO_000300: 3.9205e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.69e-2

MQ
type: SiteQuality
SIO_000300: 5.728e1

QD
type: SiteQuality
SIO_000300: 8.98e0

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

GenotypeDepth
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23268
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 24989
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.96078431372549e-4
allele num: 5100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1242
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 3.91765e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 2
bin: 4.25e1
variant carriers: 2

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

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

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

GenotypeDepth
all individuals: 662
bin: 2.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2247
bin: 1.75e1
variant carriers: 13

GenotypeQuality
all individuals: 489
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1242
bin: 1.25e1
variant carriers: 13

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 50
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 36

GenotypeQuality
all individuals: 245
bin: 9.75e1
variant carriers: 245

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 16

GenotypeQuality
all individuals: 45
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 26166
bin: 7.5e0
variant carriers: 11

GenotypeQuality
all individuals: 183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 11

GenotypeQuality
all individuals: 281
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 19505
bin: 2.25e1
variant carriers: 19

GenotypeQuality
all individuals: 30
bin: 8.25e1
variant carriers: 25

GenotypeQuality
all individuals: 3967
bin: 6.25e1
variant carriers: 17

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 22

GenotypeQuality
all individuals: 612
bin: 2.75e1
variant carriers: 15

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 21

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 2.597402597402597e-3
allele num: 1540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 165
allele frequency: 1.964753512741129e-2
allele num: 8398
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 1.304347826086956e-2
allele num: 460
num of homozygotes: 0

South Asian
type: Population
allele count: 58
allele frequency: 8.983890954151178e-3
allele num: 6456
num of homozygotes: 4

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.291989664082687e-3
allele num: 774
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.18e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 3.82755e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.436e1

GenotypeDepth
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1169
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27732
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 18232
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4445
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1197
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 6.493506493506494e-3
allele num: 154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

DP
type: SiteQuality
SIO_000300: 3.76891e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.69e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.697e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

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

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

GenotypeQuality
all individuals: 2260
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4585
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1266
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28598
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 158
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.934812760055479e-4
allele num: 1442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7340
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.88e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.68e-1

QD
type: SiteQuality
SIO_000300: 7.73e0

DP
type: SiteQuality
SIO_000300: 3.70181e5

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

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

GenotypeQuality
all individuals: 1955
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16910
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28731
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4646
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1438
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.94e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.808e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 3.71994e5

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31971
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13353
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 941
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 54
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5300
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523461304082876e-4
allele num: 6564
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.409e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 3.53159e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 9.994999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.814e1

VQSLOD
type: SiteQuality
SIO_000300: -7.528e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.685e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.54e-2

QD
type: SiteQuality
SIO_000300: 1.072e1

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6545
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5316
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -7.719e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

DP
type: SiteQuality
SIO_000300: 2.97352e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.746e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

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

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

GenotypeQuality
all individuals: 51
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 956
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.65299e5

VQSLOD
type: SiteQuality
SIO_000300: -4.112e-1

QD
type: SiteQuality
SIO_000300: 8.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.01e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.079002079002079e-3
allele num: 962
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.650704974727321e-4
allele num: 7518
num of homozygotes: 0

Latino
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: 4348
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.229e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 9.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-2

DP
type: SiteQuality
SIO_000300: 2.65282e5

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 1

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

South Asian
type: Population
allele count: 12
allele frequency: 1.598721023181455e-3
allele num: 7506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 934
num of homozygotes: 0

Latino
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: 4282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.019999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.697e-1

FS
type: SiteQuality
SIO_000300: 3.198e0

QD
type: SiteQuality
SIO_000300: 1.136e1

DP
type: SiteQuality
SIO_000300: 2.61361e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.766e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

GenotypeQuality
all individuals: 43
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 37
allele frequency: 4.933333333333333e-3
allele num: 7500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 6.329113924050633e-3
allele num: 158
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 2.472e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.105e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 2.53785e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
all individuals: 4776
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.349163518618457e-4
allele num: 7412
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.887e0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.789e0

DP
type: SiteQuality
SIO_000300: 2.19167e5

VQSLOD
type: SiteQuality
SIO_000300: -3.356e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.110000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

GenotypeQuality
all individuals: 46
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 2.431775195893002e-3
allele num: 7402
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.916e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.795e0

QD
type: SiteQuality
SIO_000300: 1.158e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.13e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.204e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

DP
type: SiteQuality
SIO_000300: 2.17492e5

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 3027
bin: 2.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3160
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.466275659824047e-4
allele num: 6820
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

QD
type: SiteQuality
SIO_000300: 1.473e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.679999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 1.81147e5

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.925207756232687e-4
allele num: 2888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 6.35e0

VQSLOD
type: SiteQuality
SIO_000300: -1.185e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.909999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.321e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.55078e5

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 3.33555703802535e-4
allele num: 5996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

DP
type: SiteQuality
SIO_000300: 1.55852e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.41e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2854
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 3.33555703802535e-4
allele num: 5996
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

DP
type: SiteQuality
SIO_000300: 1.55852e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.41e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

GenotypeQuality
all individuals: 2398
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 3.346720214190094e-4
allele num: 5976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.404e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.93e-2

DP
type: SiteQuality
SIO_000300: 1.55771e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.935e0

MQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.969e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

Latino
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: 680
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.09e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.42057e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.65e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 2
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 2.952755905511811e-2
allele num: 508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

QD
type: SiteQuality
SIO_000300: 1.243e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.02942e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.55e-2

GenotypeQuality
all individuals: 378
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.119151590767311e-4
allele num: 3206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

DP
type: SiteQuality
SIO_000300: 9.5743e4

GenotypeQuality
all individuals: 1
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

South Asian
type: Population
allele count: 19
allele frequency: 7.433489827856025e-3
allele num: 2556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 8.7768e4

QD
type: SiteQuality
SIO_000300: 1.116e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.567e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.567e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

QD
type: SiteQuality
SIO_000300: 1.116e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

DP
type: SiteQuality
SIO_000300: 8.7768e4