2-25830187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25830187
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25830187
    reference: chr 2
allele count: 1
allele frequency: 1.859911468214113e-5
allele num: 53766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+20853G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.366G>A
  hgvsp: ENST00000404103.3:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.366G>A
  hgvsp: ENST00000407186.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.366G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.366G>A
  hgvsp: ENST00000349996.6:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.366G>A
  hgvsp: ENST00000405222.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.366G>A
  hgvsp: ENST00000407661.3:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.366G>A
  hgvsp: ENST00000288642.8:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.500G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.366G>A
  hgvsp: ENST00000398951.2:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.366G>A
  hgvsp: ENST00000406818.3:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.366G>A
  hgvsp: ENST00000303659.4:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+20853G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.195G>A
  hgvsp: ENST00000496972.2:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.390-11078G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.149-26492G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.366G>A
  hgvsp: ENST00000407038.3:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu122Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-25830194-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25830194
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25830194
    reference: chr 2
allele count: 2
allele frequency: 4.12660421738951e-5
allele num: 48466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.363-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.363-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.149-26499G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.363-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.363-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.363-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.363-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.363-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.363-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.363-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.363-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.390-11085G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.497-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.363-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+20846G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.192-4G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+20846G>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.363-4G>T
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-25830206-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25830206
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25830206
    reference: chr 2
allele count: 5
allele frequency: 1.269809020723283e-4
allele num: 39376
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.363-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.363-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.363-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.363-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.363-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.363-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.192-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.363-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.363-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.363-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.363-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.497-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.390-11097A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.363-16A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+20834A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.149-26511A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+20834A>C
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18353
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-25830207-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25830207
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25830207
    reference: chr 2
allele count: 2
allele frequency: 5.411548243952595e-5
allele num: 36958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.363-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.363-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.363-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+20833T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.363-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.363-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.390-11098T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.497-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.363-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.363-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.363-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.363-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.192-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+20833T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.363-17T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.149-26512T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.363-17T>C
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-25830218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25830218
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25830218
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 32104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.363-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.363-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.497-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.363-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.390-11109A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.363-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+20822A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.363-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.363-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.363-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.363-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.192-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.363-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.363-28A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+20822A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.149-26523A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.363-28A>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-25830224-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25830224
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25830224
    reference: chr 2
allele count: 12
allele frequency: 4.044216770018873e-4
allele num: 29672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.363-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.363-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+20816A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.363-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.363-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.363-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.497-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.363-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.363-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.363-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.390-11115A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.363-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.363-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.149-26529A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+20816A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.192-34A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.363-34A>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19249
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-25830238-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25830238
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25830238
    reference: chr 2
allele count: 1
allele frequency: 3.759115855950681e-5
allele num: 26602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.363-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.497-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+20802T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.363-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.149-26543T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+20802T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.363-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.363-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.363-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.363-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.192-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.363-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.363-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.363-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.363-48T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.390-11129T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.363-48T>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-25850996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25850996
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25850996
    reference: chr 2
allele count: 2
allele frequency: 1.764975819831268e-5
allele num: 113316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10887A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+44A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+44A>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-25850998-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25850998
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25850998
    reference: chr 2
allele count: 7
allele frequency: 6.137228427642077e-5
allele num: 114058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10885A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+42A>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+42A>C
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10453
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-25851005-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851005
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851005
    reference: chr 2
allele count: 1
allele frequency: 8.733166820952613e-6
allele num: 114506
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10878T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+35T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+35T>C
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

2-25851011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851011
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851011
    reference: chr 2
allele count: 4
allele frequency: 3.476024123607418e-5
allele num: 115074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+29C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10872C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+29C>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-25851015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851015
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851015
    reference: chr 2
allele count: 2
allele frequency: 1.725953157631302e-5
allele num: 115878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10868C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+25C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+25C>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/2-25851016-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851016
    reference: chr 2
allele count: 1
allele frequency: 8.61489687968435e-6
allele num: 116078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10867G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+24G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+24G>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

2-25851016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851016
    reference: chr 2
allele count: 4
allele frequency: 3.44595875187374e-5
allele num: 116078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10867G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+24G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+24G>A
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30792
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-25851017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851017
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851017
    reference: chr 2
allele count: 65
allele frequency: 5.573753622939855e-4
allele num: 116618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10866C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+23C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+23C>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-25851020-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851020
    reference: chr 2
allele count: 1
allele frequency: 8.523114687031229e-6
allele num: 117328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10863A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+20A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+20A>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-25851027-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851027
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851027
    reference: chr 2
allele count: 1
allele frequency: 8.430281571404485e-6
allele num: 118620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10856T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+13T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+13T>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-25851035-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851035
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851035
    reference: chr 2
allele count: 4
allele frequency: 3.349915414635781e-5
allele num: 119406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10848G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+5G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+5G>A
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.362+5G>A
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-25851036-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851036
    reference: chr 2
allele count: 1
allele frequency: 8.368761088608442e-6
allele num: 119492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.362+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.362+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.362+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-10+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.362+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.362+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.389+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.496+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.362+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.362+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.362+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.362+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10847A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.362+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.191+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.362+4A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.407+4A>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.362+4A>G
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-25851042-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851042
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851042
    reference: chr 2
allele count: 1
allele frequency: 8.335973058135075e-6
allele num: 119962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.189C>G
  hgvsp: ENSP00000444463.1:p.Asp63Glu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.360C>G
  hgvsp: ENSP00000340957.6:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.360C>G
  hgvsp: ENSP00000306529.4:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.360C>G
  hgvsp: ENSP00000385482.3:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.405C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.360C>G
  hgvsp: ENSP00000288642.8:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.360C>G
  hgvsp: ENSP00000384787.1:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.360C>G
  hgvsp: ENSP00000385193.3:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.527C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.360C>G
  hgvsp: ENSP00000385784.1:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.360C>G
  hgvsp: ENSP00000384084.3:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.360C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.360C>G
  hgvsp: ENSP00000381924.2:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.360C>G
  hgvsp: ENSP00000384767.3:p.Asp120Glu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-12C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.387C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.494C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10841C>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp120Glu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-25851050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851050
    reference: chr 2
allele count: 2
allele frequency: 1.6622616732326e-5
allele num: 120318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.379G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.352G>A
  hgvsp: ENSP00000306529.4:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.352G>A
  hgvsp: ENSP00000340957.6:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.352G>A
  hgvsp: ENSP00000384787.1:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.519G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.352G>A
  hgvsp: ENSP00000385784.1:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.352G>A
  hgvsp: ENSP00000384767.3:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.352G>A
  hgvsp: ENSP00000381924.2:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.181G>A
  hgvsp: ENSP00000444463.1:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.352G>A
  hgvsp: ENSP00000384084.3:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.352G>A
  hgvsp: ENSP00000288642.8:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10833G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.352G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.486G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.352G>A
  hgvsp: ENSP00000385193.3:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.352G>A
  hgvsp: ENSP00000385482.3:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.397G>A
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala118Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-25851050-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851050
    reference: chr 2
allele count: 5
allele frequency: 4.1556541830815e-5
allele num: 120318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.352G>T
  hgvsp: ENSP00000385784.1:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.352G>T
  hgvsp: ENSP00000385482.3:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10833G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.181G>T
  hgvsp: ENSP00000444463.1:p.Ala61Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.352G>T
  hgvsp: ENSP00000381924.2:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.352G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.352G>T
  hgvsp: ENSP00000288642.8:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.352G>T
  hgvsp: ENSP00000384787.1:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.352G>T
  hgvsp: ENSP00000340957.6:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.486G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.352G>T
  hgvsp: ENSP00000384767.3:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.352G>T
  hgvsp: ENSP00000385193.3:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.352G>T
  hgvsp: ENSP00000384084.3:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.352G>T
  hgvsp: ENSP00000306529.4:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.379G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.397G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.519G>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala118Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum

2-25851057-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851057
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851055
    reference: chr 2
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.366_367delAT
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.343_344delAT
  hgvsp: ENSP00000384084.3:p.Met115AspfsTer5
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-29_-28delAT
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.388_389delAT
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.477_478delAT
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10824_148+10825delAT
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.343_344delAT
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.343_344delAT
  hgvsp: ENSP00000384787.1:p.Met115AspfsTer5
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.343_344delAT
  hgvsp: ENSP00000340957.6:p.Met115AspfsTer5
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.343_344delAT
  hgvsp: ENSP00000385482.3:p.Met115AspfsTer5
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.343_344delAT
  hgvsp: ENSP00000381924.2:p.Met115AspfsTer5
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.343_344delAT
  hgvsp: ENSP00000306529.4:p.Met115AspfsTer5
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.370_371delAT
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.343_344delAT
  hgvsp: ENSP00000288642.8:p.Met115AspfsTer5
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.172_173delAT
  hgvsp: ENSP00000444463.1:p.Met58AspfsTer5
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.510_511delAT
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.343_344delAT
  hgvsp: ENSP00000385193.3:p.Met115AspfsTer5
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.343_344delAT
  hgvsp: ENSP00000385784.1:p.Met115AspfsTer5
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.343_344delAT
  hgvsp: ENSP00000384767.3:p.Met115AspfsTer5
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met115AspfsTer5
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: CAT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-25851068-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851068
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851068
    reference: chr 2
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.334C>G
  hgvsp: ENSP00000385193.3:p.Leu112Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.334C>G
  hgvsp: ENSP00000288642.8:p.Leu112Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.361C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.163C>G
  hgvsp: ENSP00000444463.1:p.Leu55Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.334C>G
  hgvsp: ENSP00000340957.6:p.Leu112Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.334C>G
  hgvsp: ENSP00000384767.3:p.Leu112Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.334C>G
  hgvsp: ENSP00000385482.3:p.Leu112Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.334C>G
  hgvsp: ENSP00000381924.2:p.Leu112Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.468C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.334C>G
  hgvsp: ENSP00000384084.3:p.Leu112Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10815C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.357C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.334C>G
  hgvsp: ENSP00000385784.1:p.Leu112Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.334C>G
  hgvsp: ENSP00000306529.4:p.Leu112Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-38C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.334C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.379C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.334C>G
  hgvsp: ENSP00000384787.1:p.Leu112Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.501C>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu112Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-25851072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851072
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851072
    reference: chr 2
allele count: 2
allele frequency: 1.658539821541115e-5
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.330C>T
  hgvsp: ENST00000349996.6:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.353C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.330C>T
  hgvsp: ENST00000407661.3:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.330C>T
  hgvsp: ENST00000407038.3:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.330C>T
  hgvsp: ENST00000303659.4:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.159C>T
  hgvsp: ENST00000496972.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.330C>T
  hgvsp: ENST00000405222.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.330C>T
  hgvsp: ENST00000288642.8:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.357C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.464C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.330C>T
  hgvsp: ENST00000407186.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.330C>T
  hgvsp: ENST00000406818.3:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.330C>T
  hgvsp: ENST00000404103.3:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.330C>T
  hgvsp: ENST00000398951.2:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.497C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10811C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.330C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.375C>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu110Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

2-25851074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851074
    reference: chr 2
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10809C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.328C>T
  hgvsp: ENSP00000385482.3:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.373C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.328C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.328C>T
  hgvsp: ENSP00000385784.1:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.328C>T
  hgvsp: ENSP00000384767.3:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.328C>T
  hgvsp: ENSP00000288642.8:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.328C>T
  hgvsp: ENSP00000306529.4:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.328C>T
  hgvsp: ENSP00000385193.3:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.328C>T
  hgvsp: ENSP00000384787.1:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.351C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.328C>T
  hgvsp: ENSP00000340957.6:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.157C>T
  hgvsp: ENSP00000444463.1:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.328C>T
  hgvsp: ENSP00000384084.3:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.328C>T
  hgvsp: ENSP00000381924.2:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.495C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.355C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.462C>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu110Phe
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-25851080-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851080
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851080
    reference: chr 2
allele count: 5
allele frequency: 4.145318277537349e-5
allele num: 120618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.322A>G
  hgvsp: ENSP00000385193.3:p.Ile108Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.322A>G
  hgvsp: ENSP00000384767.3:p.Ile108Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.489A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.322A>G
  hgvsp: ENSP00000384787.1:p.Ile108Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.322A>G
  hgvsp: ENSP00000306529.4:p.Ile108Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.367A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.456A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.322A>G
  hgvsp: ENSP00000340957.6:p.Ile108Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.345A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.322A>G
  hgvsp: ENSP00000384084.3:p.Ile108Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.322A>G
  hgvsp: ENSP00000381924.2:p.Ile108Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.322A>G
  hgvsp: ENSP00000385784.1:p.Ile108Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-50A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.322A>G
  hgvsp: ENSP00000288642.8:p.Ile108Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.151A>G
  hgvsp: ENSP00000444463.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10803A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.322A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.322A>G
  hgvsp: ENSP00000385482.3:p.Ile108Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.349A>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile108Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

2-25851088-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851088
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851088
    reference: chr 2
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.481A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.314A>G
  hgvsp: ENSP00000385784.1:p.Glu105Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.314A>G
  hgvsp: ENSP00000384084.3:p.Glu105Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.314A>G
  hgvsp: ENSP00000385482.3:p.Glu105Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.448A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.314A>G
  hgvsp: ENSP00000384767.3:p.Glu105Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.337A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10795A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.314A>G
  hgvsp: ENSP00000385193.3:p.Glu105Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.314A>G
  hgvsp: ENSP00000306529.4:p.Glu105Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.314A>G
  hgvsp: ENSP00000288642.8:p.Glu105Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.314A>G
  hgvsp: ENSP00000384787.1:p.Glu105Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.314A>G
  hgvsp: ENSP00000381924.2:p.Glu105Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.143A>G
  hgvsp: ENSP00000444463.1:p.Glu48Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.314A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.359A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.314A>G
  hgvsp: ENSP00000340957.6:p.Glu105Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-58A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.341A>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu105Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

2-25851094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851094
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851094
    reference: chr 2
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.442G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.353G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.308G>A
  hgvsp: ENSP00000385193.3:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.308G>A
  hgvsp: ENSP00000385784.1:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.308G>A
  hgvsp: ENSP00000288642.8:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.308G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.308G>A
  hgvsp: ENSP00000384767.3:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.308G>A
  hgvsp: ENSP00000384084.3:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.308G>A
  hgvsp: ENSP00000385482.3:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.475G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-64G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.308G>A
  hgvsp: ENSP00000340957.6:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.308G>A
  hgvsp: ENSP00000306529.4:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.137G>A
  hgvsp: ENSP00000444463.1:p.Ser46Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.308G>A
  hgvsp: ENSP00000381924.2:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.308G>A
  hgvsp: ENSP00000384787.1:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.335G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.331G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10789G>A
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser103Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD

2-25851100-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851100
    reference: chr 2
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.302A>G
  hgvsp: ENSP00000306529.4:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.302A>G
  hgvsp: ENSP00000385482.3:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.302A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.302A>G
  hgvsp: ENSP00000288642.8:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.302A>G
  hgvsp: ENSP00000384767.3:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.469A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.302A>G
  hgvsp: ENSP00000385784.1:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.302A>G
  hgvsp: ENSP00000384787.1:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.325A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.302A>G
  hgvsp: ENSP00000384084.3:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.302A>G
  hgvsp: ENSP00000340957.6:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.302A>G
  hgvsp: ENSP00000381924.2:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.329A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.131A>G
  hgvsp: ENSP00000444463.1:p.Gln44Arg
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.436A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-70A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.302A>G
  hgvsp: ENSP00000385193.3:p.Gln101Arg
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.347A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10783A>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln101Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-25851107-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851107
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851107
    reference: chr 2
allele count: 28
allele frequency: 2.320570197248467e-4
allele num: 120660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.295A>G
  hgvsp: ENSP00000385193.3:p.Thr99Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.429A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.295A>G
  hgvsp: ENSP00000340957.6:p.Thr99Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.295A>G
  hgvsp: ENSP00000384787.1:p.Thr99Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.295A>G
  hgvsp: ENSP00000288642.8:p.Thr99Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10776A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.295A>G
  hgvsp: ENSP00000384084.3:p.Thr99Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.295A>G
  hgvsp: ENSP00000384767.3:p.Thr99Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.318A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.322A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.340A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-77A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.295A>G
  hgvsp: ENSP00000306529.4:p.Thr99Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.295A>G
  hgvsp: ENSP00000385482.3:p.Thr99Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.295A>G
  hgvsp: ENSP00000381924.2:p.Thr99Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.295A>G
  hgvsp: ENSP00000385784.1:p.Thr99Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.124A>G
  hgvsp: ENSP00000444463.1:p.Thr42Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.462A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.295A>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr99Ala
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

2-25851118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851118
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851118
    reference: chr 2
allele count: 2
allele frequency: 1.658044833532299e-5
allele num: 120624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.329G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.284G>A
  hgvsp: ENSP00000384084.3:p.Arg95His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.284G>A
  hgvsp: ENSP00000385784.1:p.Arg95His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.284G>A
  hgvsp: ENSP00000381924.2:p.Arg95His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.284G>A
  hgvsp: ENSP00000385193.3:p.Arg95His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.284G>A
  hgvsp: ENSP00000384767.3:p.Arg95His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.284G>A
  hgvsp: ENSP00000385482.3:p.Arg95His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.284G>A
  hgvsp: ENSP00000288642.8:p.Arg95His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10765G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.284G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.284G>A
  hgvsp: ENSP00000306529.4:p.Arg95His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.451G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.284G>A
  hgvsp: ENSP00000384787.1:p.Arg95His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.307G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.284G>A
  hgvsp: ENSP00000340957.6:p.Arg95His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.418G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.311G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-88G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.113G>A
  hgvsp: ENSP00000444463.1:p.Arg38His
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg95His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

2-25851119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851119
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851119
    reference: chr 2
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.283C>T
  hgvsp: ENSP00000385482.3:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.417C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.283C>T
  hgvsp: ENSP00000381924.2:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10764C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.283C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.283C>T
  hgvsp: ENSP00000385784.1:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.283C>T
  hgvsp: ENSP00000306529.4:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.283C>T
  hgvsp: ENSP00000340957.6:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.306C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.283C>T
  hgvsp: ENSP00000385193.3:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.283C>T
  hgvsp: ENSP00000288642.8:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.283C>T
  hgvsp: ENSP00000384084.3:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.283C>T
  hgvsp: ENSP00000384787.1:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.328C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-89C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.310C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.450C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.283C>T
  hgvsp: ENSP00000384767.3:p.Arg95Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.112C>T
  hgvsp: ENSP00000444463.1:p.Arg38Cys
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg95Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/2-25851127-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851127
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851127
    reference: chr 2
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.275T>G
  hgvsp: ENSP00000385784.1:p.Leu92Trp
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.275T>G
  hgvsp: ENSP00000384787.1:p.Leu92Trp
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.275T>G
  hgvsp: ENSP00000306529.4:p.Leu92Trp
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.275T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.275T>G
  hgvsp: ENSP00000384767.3:p.Leu92Trp
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.275T>G
  hgvsp: ENSP00000384084.3:p.Leu92Trp
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.320T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.104T>G
  hgvsp: ENSP00000444463.1:p.Leu35Trp
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.442T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.275T>G
  hgvsp: ENSP00000385193.3:p.Leu92Trp
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.275T>G
  hgvsp: ENSP00000340957.6:p.Leu92Trp
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.275T>G
  hgvsp: ENSP00000288642.8:p.Leu92Trp
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.275T>G
  hgvsp: ENSP00000385482.3:p.Leu92Trp
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.409T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.275T>G
  hgvsp: ENSP00000381924.2:p.Leu92Trp
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-97T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.302T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.298T>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10756T>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu92Trp
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-25851128-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851128
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851128
    reference: chr 2
allele count: 7
allele frequency: 5.80508193458502e-5
allele num: 120584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.297T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.274T>C
  hgvsp: ENST00000288642.8:c.274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.274T>C
  hgvsp: ENST00000406818.3:c.274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.274T>C
  hgvsp: ENST00000404103.3:c.274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.408T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10755T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.274T>C
  hgvsp: ENST00000407038.3:c.274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-98T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.274T>C
  hgvsp: ENST00000407186.1:c.274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.274T>C
  hgvsp: ENST00000405222.1:c.274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.274T>C
  hgvsp: ENST00000349996.6:c.274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.274T>C
  hgvsp: ENST00000398951.2:c.274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.274T>C
  hgvsp: ENST00000407661.3:c.274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.274T>C
  hgvsp: ENST00000303659.4:c.274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.301T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.319T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.441T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.274T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.103T>C
  hgvsp: ENST00000496972.2:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu92Leu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

2-25851133-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851133
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851133
    reference: chr 2
allele count: 6
allele frequency: 4.976775049767751e-5
allele num: 120560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.403A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.314A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.269A>G
  hgvsp: ENSP00000288642.8:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.269A>G
  hgvsp: ENSP00000384084.3:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.269A>G
  hgvsp: ENSP00000384787.1:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.269A>G
  hgvsp: ENSP00000340957.6:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.269A>G
  hgvsp: ENSP00000385482.3:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10750A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.269A>G
  hgvsp: ENSP00000381924.2:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.269A>G
  hgvsp: ENSP00000306529.4:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.269A>G
  hgvsp: ENSP00000385784.1:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.98A>G
  hgvsp: ENSP00000444463.1:p.Tyr33Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-103A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.269A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.296A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.436A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.292A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.269A>G
  hgvsp: ENSP00000384767.3:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.269A>G
  hgvsp: ENSP00000385193.3:p.Tyr90Cys
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr90Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-25851144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851144
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851144
    reference: chr 2
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.258C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.258C>T
  hgvsp: ENST00000303659.4:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10739C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.258C>T
  hgvsp: ENST00000405222.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.303C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.258C>T
  hgvsp: ENST00000404103.3:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.258C>T
  hgvsp: ENST00000407186.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.258C>T
  hgvsp: ENST00000407661.3:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.258C>T
  hgvsp: ENST00000288642.8:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.258C>T
  hgvsp: ENST00000406818.3:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.258C>T
  hgvsp: ENST00000349996.6:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.425C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.281C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.392C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.258C>T
  hgvsp: ENST00000398951.2:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.87C>T
  hgvsp: ENST00000496972.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.285C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.258C>T
  hgvsp: ENST00000407038.3:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-114C>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser86Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-25851153-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851153
    reference: chr 2
allele count: 5
allele frequency: 4.159041756779238e-5
allele num: 120220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.249T>C
  hgvsp: ENST00000404103.3:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.78T>C
  hgvsp: ENST00000496972.2:c.78T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.272T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.249T>C
  hgvsp: ENST00000303659.4:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.416T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.249T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.249T>C
  hgvsp: ENST00000398951.2:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.249T>C
  hgvsp: ENST00000407661.3:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.249T>C
  hgvsp: ENST00000288642.8:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.249T>C
  hgvsp: ENST00000405222.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.294T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.383T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.249T>C
  hgvsp: ENST00000407038.3:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.249T>C
  hgvsp: ENST00000407186.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.249T>C
  hgvsp: ENST00000406818.3:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10730T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.276T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-123T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.249T>C
  hgvsp: ENST00000349996.6:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr83Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

2-25851158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851158
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851158
    reference: chr 2
allele count: 1
allele frequency: 8.329723786359244e-6
allele num: 120052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.244G>A
  hgvsp: ENSP00000384767.3:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.271G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.244G>A
  hgvsp: ENSP00000288642.8:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-128G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.244G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.289G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.411G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.73G>A
  hgvsp: ENSP00000444463.1:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.244G>A
  hgvsp: ENSP00000384787.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.244G>A
  hgvsp: ENSP00000385193.3:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.244G>A
  hgvsp: ENSP00000385784.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.244G>A
  hgvsp: ENSP00000384084.3:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.244G>A
  hgvsp: ENSP00000340957.6:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.244G>A
  hgvsp: ENSP00000381924.2:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.244G>A
  hgvsp: ENSP00000385482.3:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.244G>A
  hgvsp: ENSP00000306529.4:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10725G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.378G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.267G>A
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu82Lys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-25851159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851159
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851159
    reference: chr 2
allele count: 1
allele frequency: 8.329446258412741e-6
allele num: 120056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.243C>T
  hgvsp: ENST00000407186.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.243C>T
  hgvsp: ENST00000406818.3:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.243C>T
  hgvsp: ENST00000405222.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.243C>T
  hgvsp: ENST00000288642.8:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-129C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.270C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.243C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10724C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.243C>T
  hgvsp: ENST00000349996.6:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.243C>T
  hgvsp: ENST00000407038.3:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.288C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.266C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.243C>T
  hgvsp: ENST00000407661.3:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.72C>T
  hgvsp: ENST00000496972.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.243C>T
  hgvsp: ENST00000303659.4:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.243C>T
  hgvsp: ENST00000398951.2:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.410C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.243C>T
  hgvsp: ENST00000404103.3:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.377C>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu81Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-25851159-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851159
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851159
    reference: chr 2
allele count: 1
allele frequency: 8.329446258412741e-6
allele num: 120056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.377C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.72C>G
  hgvsp: ENST00000496972.2:c.72C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-129C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.243C>G
  hgvsp: ENST00000407186.1:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.243C>G
  hgvsp: ENST00000407661.3:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.243C>G
  hgvsp: ENST00000407038.3:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.410C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.243C>G
  hgvsp: ENST00000404103.3:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.243C>G
  hgvsp: ENST00000398951.2:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10724C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.243C>G
  hgvsp: ENST00000288642.8:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.243C>G
  hgvsp: ENST00000405222.1:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.266C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.243C>G
  hgvsp: ENST00000406818.3:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.243C>G
  hgvsp: ENST00000303659.4:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.288C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.243C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.270C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.243C>G
  hgvsp: ENST00000349996.6:c.243C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu81Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-25851163-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851163
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851163
    reference: chr 2
allele count: 1
allele frequency: 8.337641114575865e-6
allele num: 119938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.239G>T
  hgvsp: ENSP00000288642.8:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.239G>T
  hgvsp: ENSP00000384787.1:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.239G>T
  hgvsp: ENSP00000381924.2:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.239G>T
  hgvsp: ENSP00000384084.3:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-133G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.239G>T
  hgvsp: ENSP00000385482.3:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.262G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.239G>T
  hgvsp: ENSP00000306529.4:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.239G>T
  hgvsp: ENSP00000384767.3:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.239G>T
  hgvsp: ENSP00000340957.6:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.239G>T
  hgvsp: ENSP00000385784.1:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.406G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.239G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.266G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.239G>T
  hgvsp: ENSP00000385193.3:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10720G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.373G>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.68G>T
  hgvsp: ENSP00000444463.1:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.284G>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg80Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

2-25851163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851163
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851163
    reference: chr 2
allele count: 12
allele frequency: 1.000516933749104e-4
allele num: 119938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.266G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.239G>A
  hgvsp: ENSP00000385784.1:p.Arg80His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.406G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.239G>A
  hgvsp: ENSP00000384084.3:p.Arg80His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.239G>A
  hgvsp: ENSP00000288642.8:p.Arg80His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.239G>A
  hgvsp: ENSP00000381924.2:p.Arg80His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.68G>A
  hgvsp: ENSP00000444463.1:p.Arg23His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.239G>A
  hgvsp: ENSP00000384787.1:p.Arg80His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-133G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.239G>A
  hgvsp: ENSP00000340957.6:p.Arg80His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.239G>A
  hgvsp: ENSP00000306529.4:p.Arg80His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.239G>A
  hgvsp: ENSP00000385193.3:p.Arg80His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.239G>A
  hgvsp: ENSP00000385482.3:p.Arg80His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.239G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.239G>A
  hgvsp: ENSP00000384767.3:p.Arg80His
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10720G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.262G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.373G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.284G>A
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg80His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-25851164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851164
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851164
    reference: chr 2
allele count: 2
allele frequency: 1.668056713928273e-5
allele num: 119900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.238C>T
  hgvsp: ENSP00000306529.4:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10719C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.238C>T
  hgvsp: ENSP00000385482.3:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.238C>T
  hgvsp: ENSP00000288642.8:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.405C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.238C>T
  hgvsp: ENSP00000385784.1:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.238C>T
  hgvsp: ENSP00000384084.3:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.238C>T
  hgvsp: ENSP00000385193.3:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.238C>T
  hgvsp: ENSP00000384787.1:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-134C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.238C>T
  hgvsp: ENSP00000340957.6:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.238C>T
  hgvsp: ENSP00000381924.2:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.67C>T
  hgvsp: ENSP00000444463.1:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.283C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.238C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.238C>T
  hgvsp: ENSP00000384767.3:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.261C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.372C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.265C>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg80Cys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

2-25851166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851166
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851166
    reference: chr 2
allele count: 2
allele frequency: 1.668112364048842e-5
allele num: 119896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.236C>T
  hgvsp: ENSP00000384787.1:p.Ser79Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.236C>T
  hgvsp: ENSP00000306529.4:p.Ser79Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.236C>T
  hgvsp: ENSP00000384084.3:p.Ser79Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.236C>T
  hgvsp: ENSP00000384767.3:p.Ser79Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.236C>T
  hgvsp: ENSP00000340957.6:p.Ser79Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.370C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10717C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.236C>T
  hgvsp: ENSP00000288642.8:p.Ser79Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.236C>T
  hgvsp: ENSP00000385784.1:p.Ser79Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.403C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.65C>T
  hgvsp: ENSP00000444463.1:p.Ser22Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.236C>T
  hgvsp: ENSP00000381924.2:p.Ser79Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.236C>T
  hgvsp: ENSP00000385482.3:p.Ser79Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.236C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.236C>T
  hgvsp: ENSP00000385193.3:p.Ser79Phe
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-136C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.259C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.281C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.263C>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser79Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-25851167-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851167
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851167
    reference: chr 2
allele count: 1
allele frequency: 8.34306691139663e-6
allele num: 119860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.235T>A
  hgvsp: ENSP00000340957.6:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.235T>A
  hgvsp: ENSP00000381924.2:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.235T>A
  hgvsp: ENSP00000384084.3:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.235T>A
  hgvsp: ENSP00000306529.4:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.235T>A
  hgvsp: ENSP00000384787.1:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-137T>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.235T>A
  hgvsp: ENSP00000385482.3:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.369T>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.235T>A
  hgvsp: ENSP00000288642.8:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.64T>A
  hgvsp: ENSP00000444463.1:p.Ser22Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.235T>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.402T>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.235T>A
  hgvsp: ENSP00000384767.3:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.262T>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.280T>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.235T>A
  hgvsp: ENSP00000385193.3:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.258T>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.235T>A
  hgvsp: ENSP00000385784.1:p.Ser79Thr
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10716T>A
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser79Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-25851179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851179
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851179
    reference: chr 2
allele count: 1
allele frequency: 8.373666493610892e-6
allele num: 119422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-149G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.223G>A
  hgvsp: ENSP00000384787.1:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.223G>A
  hgvsp: ENSP00000385784.1:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.223G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.223G>A
  hgvsp: ENSP00000306529.4:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.223G>A
  hgvsp: ENSP00000385193.3:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.223G>A
  hgvsp: ENSP00000288642.8:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.223G>A
  hgvsp: ENSP00000385482.3:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.357G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.250G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.223G>A
  hgvsp: ENSP00000340957.6:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10704G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.223G>A
  hgvsp: ENSP00000384084.3:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.390G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.223G>A
  hgvsp: ENSP00000384767.3:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.246G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.52G>A
  hgvsp: ENSP00000444463.1:p.Glu18Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.223G>A
  hgvsp: ENSP00000381924.2:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.268G>A
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu75Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-25851180-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851180
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851180
    reference: chr 2
allele count: 5
allele frequency: 4.190763557120107e-5
allele num: 119310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.222C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.222C>T
  hgvsp: ENST00000404103.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-150C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.222C>T
  hgvsp: ENST00000405222.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.356C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.222C>T
  hgvsp: ENST00000303659.4:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.222C>T
  hgvsp: ENST00000407661.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.222C>T
  hgvsp: ENST00000349996.6:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.222C>T
  hgvsp: ENST00000398951.2:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.267C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.222C>T
  hgvsp: ENST00000288642.8:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.222C>T
  hgvsp: ENST00000406818.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.222C>T
  hgvsp: ENST00000407186.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.51C>T
  hgvsp: ENST00000496972.2:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.245C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.389C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.249C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.222C>T
  hgvsp: ENST00000407038.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10703C>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr74Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-25851181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851181
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851181
    reference: chr 2
allele count: 5
allele frequency: 4.188446588929098e-5
allele num: 119376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.221C>T
  hgvsp: ENSP00000384767.3:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.221C>T
  hgvsp: ENSP00000288642.8:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.248C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.221C>T
  hgvsp: ENSP00000385784.1:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.355C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.221C>T
  hgvsp: ENSP00000381924.2:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.221C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.221C>T
  hgvsp: ENSP00000385193.3:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10702C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.221C>T
  hgvsp: ENSP00000306529.4:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.221C>T
  hgvsp: ENSP00000384084.3:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-151C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.221C>T
  hgvsp: ENSP00000385482.3:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.221C>T
  hgvsp: ENSP00000340957.6:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.221C>T
  hgvsp: ENSP00000384787.1:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.266C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.388C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.244C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.50C>T
  hgvsp: ENSP00000444463.1:p.Thr17Ile
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr74Ile
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum

2-25851184-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851184
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851184
    reference: chr 2
allele count: 1
allele frequency: 8.390247176681825e-6
allele num: 119186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.218C>A
  hgvsp: ENSP00000385482.3:p.Thr73Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.218C>A
  hgvsp: ENSP00000381924.2:p.Thr73Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.218C>A
  hgvsp: ENSP00000385784.1:p.Thr73Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.218C>A
  hgvsp: ENSP00000306529.4:p.Thr73Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.218C>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.218C>A
  hgvsp: ENSP00000340957.6:p.Thr73Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.218C>A
  hgvsp: ENSP00000384767.3:p.Thr73Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.218C>A
  hgvsp: ENSP00000384787.1:p.Thr73Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.218C>A
  hgvsp: ENSP00000384084.3:p.Thr73Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.241C>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10699C>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.245C>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.218C>A
  hgvsp: ENSP00000288642.8:p.Thr73Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-154C>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.263C>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.385C>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.47C>A
  hgvsp: ENSP00000444463.1:p.Thr16Asn
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.352C>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.218C>A
  hgvsp: ENSP00000385193.3:p.Thr73Asn
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr73Asn
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

2-25851185-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851185
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851185
    reference: chr 2
allele count: 1
allele frequency: 8.388839487945237e-6
allele num: 119206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.217A>G
  hgvsp: ENSP00000385784.1:p.Thr73Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.217A>G
  hgvsp: ENSP00000385193.3:p.Thr73Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.217A>G
  hgvsp: ENSP00000385482.3:p.Thr73Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.217A>G
  hgvsp: ENSP00000384787.1:p.Thr73Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.217A>G
  hgvsp: ENSP00000288642.8:p.Thr73Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.217A>G
  hgvsp: ENSP00000384084.3:p.Thr73Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.351A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.384A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.217A>G
  hgvsp: ENSP00000306529.4:p.Thr73Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-155A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.244A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.262A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.217A>G
  hgvsp: ENSP00000381924.2:p.Thr73Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.217A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.217A>G
  hgvsp: ENSP00000340957.6:p.Thr73Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.46A>G
  hgvsp: ENSP00000444463.1:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.217A>G
  hgvsp: ENSP00000384767.3:p.Thr73Ala
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.240A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10698A>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr73Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-25851193-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851193
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851193
    reference: chr 2
allele count: 1
allele frequency: 8.415524960447032e-6
allele num: 118828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.209T>C
  hgvsp: ENSP00000306529.4:p.Leu70Pro
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.38T>C
  hgvsp: ENSP00000444463.1:p.Leu13Pro
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.376T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.343T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.209T>C
  hgvsp: ENSP00000384787.1:p.Leu70Pro
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.209T>C
  hgvsp: ENSP00000385784.1:p.Leu70Pro
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.209T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.209T>C
  hgvsp: ENSP00000385482.3:p.Leu70Pro
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.209T>C
  hgvsp: ENSP00000384767.3:p.Leu70Pro
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-163T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.209T>C
  hgvsp: ENSP00000288642.8:p.Leu70Pro
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.209T>C
  hgvsp: ENSP00000340957.6:p.Leu70Pro
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.232T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.236T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10690T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.254T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.209T>C
  hgvsp: ENSP00000381924.2:p.Leu70Pro
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.209T>C
  hgvsp: ENSP00000384084.3:p.Leu70Pro
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.209T>C
  hgvsp: ENSP00000385193.3:p.Leu70Pro
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu70Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-25851208-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851208
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851208
    reference: chr 2
allele count: 1
allele frequency: 8.505426462082808e-6
allele num: 117572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.194A>G
  hgvsp: ENSP00000385784.1:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.221A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.194A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-178A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10675A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.194A>G
  hgvsp: ENSP00000384767.3:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.194A>G
  hgvsp: ENSP00000385482.3:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.194A>G
  hgvsp: ENSP00000340957.6:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.194A>G
  hgvsp: ENSP00000384787.1:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.361A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.194A>G
  hgvsp: ENSP00000306529.4:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.194A>G
  hgvsp: ENSP00000381924.2:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.217A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.328A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.194A>G
  hgvsp: ENSP00000384084.3:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.239A>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.23A>G
  hgvsp: ENSP00000444463.1:p.Asn8Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.194A>G
  hgvsp: ENSP00000288642.8:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.194A>G
  hgvsp: ENSP00000385193.3:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn65Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

2-25851214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851214
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851214
    reference: chr 2
allele count: 2
allele frequency: 1.712563364844499e-5
allele num: 116784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.188G>A
  hgvsp: ENSP00000340957.6:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.188G>A
  hgvsp: ENSP00000385193.3:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.322G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.188G>A
  hgvsp: ENSP00000384767.3:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.188G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.355G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.188G>A
  hgvsp: ENSP00000381924.2:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.215G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.188G>A
  hgvsp: ENSP00000384084.3:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-184G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.188G>A
  hgvsp: ENSP00000385482.3:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.188G>A
  hgvsp: ENSP00000385784.1:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.188G>A
  hgvsp: ENSP00000306529.4:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.188G>A
  hgvsp: ENSP00000288642.8:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.17G>A
  hgvsp: ENSP00000444463.1:p.Arg6Gln
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10669G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.211G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.233G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.188G>A
  hgvsp: ENSP00000384787.1:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg63Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-25851215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851215
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851215
    reference: chr 2
allele count: 5
allele frequency: 4.284710439268514e-5
allele num: 116694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.187C>T
  hgvsp: ENSP00000385784.1:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.16C>T
  hgvsp: ENSP00000444463.1:p.Arg6Ter
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.187C>T
  hgvsp: ENSP00000306529.4:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.187C>T
  hgvsp: ENSP00000385482.3:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.187C>T
  hgvsp: ENSP00000384084.3:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.187C>T
  hgvsp: ENSP00000381924.2:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.187C>T
  hgvsp: ENSP00000384787.1:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-185C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.214C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.187C>T
  hgvsp: ENSP00000340957.6:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10668C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.187C>T
  hgvsp: ENSP00000385193.3:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.187C>T
  hgvsp: ENSP00000384767.3:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.321C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.187C>T
  hgvsp: ENSP00000288642.8:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.232C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.210C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.187C>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.354C>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg63Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-25851220-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851220
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851220
    reference: chr 2
allele count: 2
allele frequency: 1.726638580012432e-5
allele num: 115832
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.182C>G
  hgvsp: ENSP00000384084.3:p.Ala61Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10663C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.182C>G
  hgvsp: ENSP00000384787.1:p.Ala61Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.182C>G
  hgvsp: ENSP00000306529.4:p.Ala61Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.182C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.182C>G
  hgvsp: ENSP00000385193.3:p.Ala61Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.11C>G
  hgvsp: ENSP00000444463.1:p.Ala4Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.316C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.209C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.182C>G
  hgvsp: ENSP00000385482.3:p.Ala61Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.182C>G
  hgvsp: ENSP00000340957.6:p.Ala61Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-190C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.182C>G
  hgvsp: ENSP00000288642.8:p.Ala61Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.182C>G
  hgvsp: ENSP00000385784.1:p.Ala61Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.182C>G
  hgvsp: ENSP00000384767.3:p.Ala61Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.205C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.182C>G
  hgvsp: ENSP00000381924.2:p.Ala61Gly
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.227C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.349C>G
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala61Gly
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-25851240-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851240
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851240
    reference: chr 2
allele count: 7
allele frequency: 6.493506493506494e-5
allele num: 107800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10643T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.329T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.162T>C
  hgvsp: ENST00000407186.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.162T>C
  hgvsp: ENST00000398951.2:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.162T>C
  hgvsp: ENST00000406818.3:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.162T>C
  hgvsp: ENST00000407038.3:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.189T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.162T>C
  hgvsp: ENST00000405222.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.162T>C
  hgvsp: ENST00000404103.3:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-210T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.162T>C
  hgvsp: ENST00000303659.4:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.162T>C
  hgvsp: ENST00000349996.6:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.185T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.207T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.162T>C
  hgvsp: ENST00000288642.8:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.162T>C
  hgvsp: ENST00000407661.3:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.162T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.296T>C
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp54Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

2-25851245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851245
    reference: chr 2
allele count: 2
allele frequency: 1.905052198430237e-5
allele num: 104984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.157G>A
  hgvsp: ENSP00000340957.6:p.Val53Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.157G>A
  hgvsp: ENSP00000385482.3:p.Val53Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.157G>A
  hgvsp: ENSP00000385193.3:p.Val53Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.157G>A
  hgvsp: ENSP00000384084.3:p.Val53Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.180G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.157G>A
  hgvsp: ENSP00000385784.1:p.Val53Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.324G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.202G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.157G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.-15G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.184G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10638G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.157G>A
  hgvsp: ENSP00000306529.4:p.Val53Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.157G>A
  hgvsp: ENSP00000384767.3:p.Val53Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.157G>A
  hgvsp: ENSP00000384787.1:p.Val53Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-215G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.157G>A
  hgvsp: ENSP00000381924.2:p.Val53Ile
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.291G>A
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.157G>A
  hgvsp: ENSP00000288642.8:p.Val53Ile
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val53Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-25851248-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851248
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851248
    reference: chr 2
allele count: 7
allele frequency: 6.833001444691734e-5
allele num: 102444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.154C>G
  hgvsp: ENSP00000306529.4:p.Leu52Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.321C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.-18C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.181C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.154C>G
  hgvsp: ENSP00000381924.2:p.Leu52Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.154C>G
  hgvsp: ENSP00000288642.8:p.Leu52Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.154C>G
  hgvsp: ENSP00000385482.3:p.Leu52Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.154C>G
  hgvsp: ENSP00000385193.3:p.Leu52Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.288C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.199C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.154C>G
  hgvsp: ENSP00000384084.3:p.Leu52Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.154C>G
  hgvsp: ENSP00000384767.3:p.Leu52Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.154C>G
  hgvsp: ENSP00000385784.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.154C>G
  hgvsp: ENSP00000340957.6:p.Leu52Val
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.154C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.177C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-218C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10635C>G
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.154C>G
  hgvsp: ENSP00000384787.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu52Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-25851255-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851255
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851255
    reference: chr 2
allele count: 4
allele frequency: 4.160772239327619e-5
allele num: 96136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.149-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.149-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.149-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.149-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.172-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.149-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.149-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.283-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.316-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.149-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10628A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.149-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.149-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-223-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.149-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.149-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.194-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.-23-2A>T
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.176-2A>T
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.149-2A>T
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-25851263-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851263
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851263
    reference: chr 2
allele count: 1
allele frequency: 1.1237975366358e-5
allele num: 88984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.176-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-223-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.149-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.149-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.149-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.149-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.149-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.149-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.149-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.149-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10620T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.172-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.149-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.316-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.149-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.194-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.283-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.149-10T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.-23-10T>C
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-25851265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25851265
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 25851265
    reference: chr 2
allele count: 1
allele frequency: 1.12437878072365e-5
allele num: 88938
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384084
  ensembl transcript: ENST00000406818
  gene symbol: DTNB
  hgvsc: ENST00000406818.3:c.149-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384767
  ensembl transcript: ENST00000407038
  gene symbol: DTNB
  hgvsc: ENST00000407038.3:c.149-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000493538
  gene symbol: DTNB
  hgvsc: ENST00000493538.1:n.194-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000340957
  ensembl transcript: ENST00000349996
  gene symbol: DTNB
  hgvsc: ENST00000349996.6:c.149-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000486826
  gene symbol: DTNB
  hgvsc: ENST00000486826.1:n.172-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000485845
  gene symbol: DTNB
  hgvsc: ENST00000485845.1:n.149-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000288642
  ensembl transcript: ENST00000288642
  gene symbol: DTNB
  hgvsc: ENST00000288642.8:c.149-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385193
  ensembl transcript: ENST00000407661
  gene symbol: DTNB
  hgvsc: ENST00000407661.3:c.149-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444961
  ensembl transcript: ENST00000545439
  gene symbol: DTNB
  hgvsc: ENST00000545439.1:c.-223-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000460418
  gene symbol: DTNB
  hgvsc: ENST00000460418.1:n.316-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000306529
  ensembl transcript: ENST00000303659
  gene symbol: DTNB
  hgvsc: ENST00000303659.4:c.149-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000349007
  ensembl transcript: ENST00000356599
  gene symbol: DTNB
  hgvsc: ENST00000356599.5:c.148+10618T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000495466
  gene symbol: DTNB
  hgvsc: ENST00000495466.1:n.283-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385784
  ensembl transcript: ENST00000407186
  gene symbol: DTNB
  hgvsc: ENST00000407186.1:c.149-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000444463
  ensembl transcript: ENST00000496972
  gene symbol: DTNB
  hgvsc: ENST00000496972.2:c.-23-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000381924
  ensembl transcript: ENST00000398951
  gene symbol: DTNB
  hgvsc: ENST00000398951.2:c.149-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000384787
  ensembl transcript: ENST00000405222
  gene symbol: DTNB
  hgvsc: ENST00000405222.1:c.149-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl protein: ENSP00000385482
  ensembl transcript: ENST00000404103
  gene symbol: DTNB
  hgvsc: ENST00000404103.3:c.149-12T>C
  variant of: http://identifiers.org/hgnc/3058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138101
  ensembl transcript: ENST00000472690
  gene symbol: DTNB
  hgvsc: ENST00000472690.1:n.176-12T>C
  variant of: http://identifiers.org/hgnc/3058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13956
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 233
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4203
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7210
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12657
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 454
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3039
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2005
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1352
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7765
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 901
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3147
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.55138859293984e-5
allele num: 28158
num of homozygotes: 0

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

Latino
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: 434
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.766e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

QD
type: SiteQuality
SIO_000300: 2.764e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e0

FS
type: SiteQuality
SIO_000300: 1.78e1

MQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 8.48591e5

GenotypeDepth
all individuals: 2767
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24306
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10963
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 908
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 61
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11670
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.996161842315688e-5
allele num: 25012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4356
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.401e0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 7.5e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.35e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 8.00762e5

QD
type: SiteQuality
SIO_000300: 1.443e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

GenotypeDepth
all individuals: 631
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2287
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21259
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1971
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1167
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8399
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 2564
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22528
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 907
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2356
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3147
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19057
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.543752543752544e-4
allele num: 19656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 1.963e0

VQSLOD
type: SiteQuality
SIO_000300: -1.127e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.49e-2

DP
type: SiteQuality
SIO_000300: 7.26478e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

QD
type: SiteQuality
SIO_000300: 1.761e1

GenotypeDepth
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2532
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2214
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20705
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 19803
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 275
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7439
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3145
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2810
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19621
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 819
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20458
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2801
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.097453906935909e-4
allele num: 18224
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 7.11477e5

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.525e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeDepth
all individuals: 208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4991
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19414
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 709
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1170
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 256
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2046
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14285
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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QD
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InbreedingCoeff
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FS
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DP
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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South Asian
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African
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allele frequency: 3.472222222222222e-4
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European (Non-Finnish)
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allele frequency: 7.965242577842144e-4
allele num: 13810
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European (Finnish)
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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East Asian
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allele frequency: 0.0e0
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African
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allele num: 2598
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FS
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Finnish)
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African
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Latino
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East Asian
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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DP
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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SIO_000300: -2.5e-2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele count: 4
allele frequency: 3.743916136278548e-4
allele num: 10684
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63914
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 1.426479e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.2e-3

MQRankSum
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 1.2461e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.507e0

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.554098156839586e-5
allele num: 64346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.218026796589525e-4
allele num: 8210
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.45764e6

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
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ReadPosRankSum
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SIO_000300: 5.99e-1

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.173e0

FS
type: SiteQuality
SIO_000300: 2.236e0

QD
type: SiteQuality
SIO_000300: 1.321e1

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.551109042965721e-5
allele num: 64470
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.563e0

InbreedingCoeff
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SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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VQSLOD
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SIO_000300: 1.94e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15658
num of homozygotes: 0

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

African
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allele count: 4
allele frequency: 4.224757076468103e-4
allele num: 9468
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 67

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 61
allele frequency: 5.562648185300018e-3
allele num: 10966
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.631916996047431e-5
allele num: 64768
num of homozygotes: 0

East Asian
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allele count: 0
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South Asian
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allele count: 1
allele frequency: 6.367804381049414e-5
allele num: 15704
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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QD
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.535202186127913e-5
allele num: 65138
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.497928e6

BaseQRankSum
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MQRankSum
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SIO_000300: 8.799999999999999e-2

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.18e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.594e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519018106695832e-5
allele num: 65832
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

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

ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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SIO_000300: 1.3606e1

VQSLOD
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ClippingRankSum
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SIO_000300: -5.2e-1

DP
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SIO_000300: 1.525197e6

MQ
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SIO_000300: 5.904e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.813678829543451e-5
allele num: 11346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.531174480425326e-5
allele num: 66208
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.597e0

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
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SIO_000300: -3.804e0

QD
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SIO_000300: 1.433e1

VQSLOD
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SIO_000300: 9.399999999999999e-1

ReadPosRankSum
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SIO_000300: -2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.541143e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509707418702255e-5
allele num: 66238
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 1.7e-2

ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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SIO_000300: 6.13e-1

MQ
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SIO_000300: 5.947e1

InbreedingCoeff
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SIO_000300: 8.500000000000001e-3

QD
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DP
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GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
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allele frequency: 8.748906386701662e-5
allele num: 11430
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.222045704509349e-4
allele num: 16366
num of homozygotes: 0

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

South Asian
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Other
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African
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European (Non-Finnish)
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East Asian
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Latino
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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European (Non-Finnish)
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African
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East Asian
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South Asian
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European (Finnish)
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VQSLOD
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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QD
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DP
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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FS
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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East Asian
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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FS
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Latino
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South Asian
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VQSLOD
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DP
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QD
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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South Asian
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ClippingRankSum
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DP
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MQ
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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MQ
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQ
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FS
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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QD
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MQRankSum
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VQSLOD
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DP
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FS
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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FS
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DP
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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MQ
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VQSLOD
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DP
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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QD
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MQ
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VQSLOD
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East Asian
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European (Finnish)
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African
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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MQRankSum
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FS
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 65528
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Latino
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African
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East Asian
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Other
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European (Finnish)
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South Asian
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FS
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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MQ
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SIO_000300: 5.93e1

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

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