13-28011433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28011433
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28011433
    reference: chr 13
allele count: 1
allele frequency: 8.440100605999223e-6
allele num: 118482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.461-23G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.678-23G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.461-23G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.675-23G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.461-23G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.628-23G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.461-23G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.580-23G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.721-23G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.632-23G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

13-28011436-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28011436
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28011436
    reference: chr 13
allele count: 1
allele frequency: 8.447087444249223e-6
allele num: 118384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.461-26C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.628-26C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.721-26C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.461-26C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.580-26C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.678-26C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.675-26C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.461-26C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.632-26C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.461-26C>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4738
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

13-28011440-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28011440
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28011440
    reference: chr 13
allele count: 1
allele frequency: 8.466540232999188e-6
allele num: 118112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.678-30A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.675-30A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.461-30A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.580-30A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.628-30A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.721-30A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.461-30A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.461-30A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.632-30A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.461-30A>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

13-28011442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28011442
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28011442
    reference: chr 13
allele count: 1
allele frequency: 8.487811502682149e-6
allele num: 117816
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.461-32G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.461-32G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.675-32G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.461-32G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.461-32G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.721-32G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.628-32G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.678-32G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.580-32G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.632-32G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

13-28011444-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28011444
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28011444
    reference: chr 13
allele count: 4
allele frequency: 3.395931673854722e-5
allele num: 117788
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.461-34C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.678-34C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.461-34C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.632-34C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.461-34C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.580-34C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.675-34C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.461-34C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.721-34C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.628-34C>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9810
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5468
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

13-28011445-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28011445
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28011445
    reference: chr 13
allele count: 1
allele frequency: 8.49689863199932e-6
allele num: 117690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.580-35T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.461-35T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.461-35T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.675-35T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.632-35T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.721-35T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.461-35T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.628-35T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.678-35T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.461-35T>C
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

13-28011449-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28011449
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28011449
    reference: chr 13
allele count: 1
allele frequency: 8.518903446748335e-6
allele num: 117386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.678-39C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.461-39C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.461-39C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.721-39C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.628-39C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.675-39C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.580-39C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.461-39C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.632-39C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.461-39C>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

13-28011452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28011452
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28011452
    reference: chr 13
allele count: 1
allele frequency: 8.579125272387228e-6
allele num: 116562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.721-42G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.678-42G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.461-42G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.461-42G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.675-42G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.461-42G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.632-42G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.580-42G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.461-42G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.628-42G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3527
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum

13-28011453-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28011453
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28011453
    reference: chr 13
allele count: 1
allele frequency: 8.554027236022719e-6
allele num: 116904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.678-43T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.461-43T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.632-43T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.721-43T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.580-43T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.461-43T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.461-43T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.675-43T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.628-43T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.461-43T>C
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/13-28011460-ACC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28011460
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28011458
    reference: chr 13
allele count: 7
allele frequency: 6.057564166911854e-5
allele num: 115558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.580-52_580-51delGG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.721-52_721-51delGG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.678-52_678-51delGG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.461-52_461-51delGG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.461-52_461-51delGG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.675-52_675-51delGG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.461-52_461-51delGG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.461-52_461-51delGG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.632-52_632-51delGG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.628-52_628-51delGG
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13870
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14954
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: ACC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

13-28014089-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014089
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014090
    reference: chr 13
allele count: 1
allele frequency: 9.074410163339384e-6
allele num: 110200
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.627+36dupA
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.720+36dupA
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.460+36dupA
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.674+36dupA
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.677+36dupA
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.460+36dupA
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.460+36dupA
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.579+36dupA
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.460+36dupA
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.631+36dupA
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

13-28014090-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014090
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014090
    reference: chr 13
allele count: 1
allele frequency: 9.051412020275162e-6
allele num: 110480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.720+36A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.460+36A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.674+36A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.460+36A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.677+36A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.627+36A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.460+36A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.460+36A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.579+36A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.631+36A>C
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

13-28014096-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014096
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014096
    reference: chr 13
allele count: 340
allele frequency: 3.04016595729461e-3
allele num: 111836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.460+30C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.460+30C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.627+30C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.631+30C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.720+30C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.677+30C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.579+30C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.674+30C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.460+30C>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.460+30C>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33786
  bin: 2.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 2.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 3
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

13-28014125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014125
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014125
    reference: chr 13
allele count: 2
allele frequency: 1.660688189185599e-5
allele num: 120432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.631+1G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.677+1G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.720+1G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.460+1G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.627+1G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.579+1G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.674+1G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.460+1G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.460+1G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.460+1G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13750
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
hgvs: c.460+1G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

13-28014139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014139
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014139
    reference: chr 13
allele count: 22
allele frequency: 1.817190623296384e-4
allele num: 121066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.661G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.447G>A
  hgvsp: ENST00000381120.3:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.566G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.447G>A
  hgvsp: ENST00000431572.2:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.447G>A
  hgvsp: ENST00000405591.2:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.447G>A
  hgvsp: ENST00000381116.1:c.447G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.664G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.707G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.618G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.614G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14376
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala149Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

13-28014140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014140
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014140
    reference: chr 13
allele count: 5
allele frequency: 4.129296533042631e-5
allele num: 121086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.446C>T
  hgvsp: ENSP00000370512.3:p.Ala149Val
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.446C>T
  hgvsp: ENSP00000400084.2:p.Ala149Val
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.706C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.660C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.446C>T
  hgvsp: ENSP00000384659.2:p.Ala149Val
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.613C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.446C>T
  hgvsp: ENSP00000370508.1:p.Ala149Val
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.663C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.617C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.565C>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala149Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

13-28014147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014147
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014147
    reference: chr 13
allele count: 7
allele frequency: 5.774624649397789e-5
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.439G>A
  hgvsp: ENSP00000370508.1:p.Glu147Lys
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.439G>A
  hgvsp: ENSP00000370512.3:p.Glu147Lys
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.653G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.699G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.558G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.439G>A
  hgvsp: ENSP00000400084.2:p.Glu147Lys
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.439G>A
  hgvsp: ENSP00000384659.2:p.Glu147Lys
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.610G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.656G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.606G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu147Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

13-28014155-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014155
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014155
    reference: chr 13
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.431G>A
  hgvsp: ENSP00000384659.2:p.Arg144Lys
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.550G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.602G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.645G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.691G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.431G>A
  hgvsp: ENSP00000400084.2:p.Arg144Lys
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.431G>A
  hgvsp: ENSP00000370508.1:p.Arg144Lys
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.648G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.431G>A
  hgvsp: ENSP00000370512.3:p.Arg144Lys
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.598G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg144Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

13-28014167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014167
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014167
    reference: chr 13
allele count: 88
allele frequency: 7.25187065299799e-4
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.636G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.419G>A
  hgvsp: ENSP00000384659.2:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.419G>A
  hgvsp: ENSP00000370508.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.590G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.586G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.538G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.419G>A
  hgvsp: ENSP00000370512.3:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.633G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.419G>A
  hgvsp: ENSP00000400084.2:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.679G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14787
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg140Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

13-28014173-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014173
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014173
    reference: chr 13
allele count: 988
allele frequency: 8.139860600767849e-3
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.532A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.584A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.413A>G
  hgvsp: ENSP00000384659.2:p.Gln138Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.627A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.413A>G
  hgvsp: ENSP00000400084.2:p.Gln138Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.630A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.673A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.413A>G
  hgvsp: ENSP00000370512.3:p.Gln138Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.580A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.413A>G
  hgvsp: ENSP00000370508.1:p.Gln138Arg
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14671
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52905
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln138Arg
num of homozygotes: 10
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

13-28014173-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014173
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014173
    reference: chr 13
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.673A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.532A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.630A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.413A>C
  hgvsp: ENSP00000370508.1:p.Gln138Pro
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.580A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.413A>C
  hgvsp: ENSP00000370512.3:p.Gln138Pro
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.584A>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.413A>C
  hgvsp: ENSP00000384659.2:p.Gln138Pro
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.413A>C
  hgvsp: ENSP00000400084.2:p.Gln138Pro
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.627A>C
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln138Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

13-28014189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014189
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014189
    reference: chr 13
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.397G>A
  hgvsp: ENSP00000384659.2:p.Gly133Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.397G>A
  hgvsp: ENSP00000400084.2:p.Gly133Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.564G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.397G>A
  hgvsp: ENSP00000370512.3:p.Gly133Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.614G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.516G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.397G>A
  hgvsp: ENSP00000370508.1:p.Gly133Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.611G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.657G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.568G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly133Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

13-28014192-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014192
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014192
    reference: chr 13
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.611A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.394A>T
  hgvsp: ENSP00000370512.3:p.Thr132Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.394A>T
  hgvsp: ENSP00000400084.2:p.Thr132Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.394A>T
  hgvsp: ENSP00000384659.2:p.Thr132Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.608A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.654A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.394A>T
  hgvsp: ENSP00000370508.1:p.Thr132Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.565A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.513A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.561A>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr132Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

13-28014226-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014226
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014226
    reference: chr 13
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.360C>T
  hgvsp: ENST00000431572.2:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.527C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.574C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.360C>T
  hgvsp: ENST00000381116.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.479C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.360C>T
  hgvsp: ENST00000405591.2:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.531C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.360C>T
  hgvsp: ENST00000381120.3:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.620C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.577C>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn120Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

13-28014230-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014230
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014230
    reference: chr 13
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.356G>C
  hgvsp: ENSP00000384659.2:p.Arg119Thr
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.475G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.356G>C
  hgvsp: ENSP00000400084.2:p.Arg119Thr
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.527G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.356G>C
  hgvsp: ENSP00000370508.1:p.Arg119Thr
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.616G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.523G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.356G>C
  hgvsp: ENSP00000370512.3:p.Arg119Thr
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.573G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.570G>C
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg119Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

13-28014237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014237
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014237
    reference: chr 13
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.566G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.609G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.520G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.349G>A
  hgvsp: ENSP00000370512.3:p.Val117Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.468G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.349G>A
  hgvsp: ENSP00000400084.2:p.Val117Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.349G>A
  hgvsp: ENSP00000370508.1:p.Val117Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.563G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.349G>A
  hgvsp: ENSP00000384659.2:p.Val117Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.516G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val117Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

13-28014238-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014238
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014238
    reference: chr 13
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.562G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.565G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.515G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.348G>A
  hgvsp: ENST00000381120.3:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.467G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.519G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.348G>A
  hgvsp: ENST00000431572.2:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.348G>A
  hgvsp: ENST00000381116.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.608G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.348G>A
  hgvsp: ENST00000405591.2:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu116Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum

13-28014243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014243
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014243
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.462C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.510C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.603C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.560C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.343C>T
  hgvsp: ENSP00000370508.1:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.514C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.557C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.343C>T
  hgvsp: ENSP00000384659.2:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.343C>T
  hgvsp: ENSP00000400084.2:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.343C>T
  hgvsp: ENSP00000370512.3:p.Arg115Ter
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg115Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

13-28014252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014252
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014252
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.453C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.334C>T
  hgvsp: ENSP00000370508.1:p.Arg112Ter
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.551C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.334C>T
  hgvsp: ENSP00000400084.2:p.Arg112Ter
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.334C>T
  hgvsp: ENSP00000370512.3:p.Arg112Ter
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.548C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.505C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.334C>T
  hgvsp: ENSP00000384659.2:p.Arg112Ter
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.594C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.501C>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg112Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

13-28014260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014260
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014260
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.543T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.540T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.445T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.326T>C
  hgvsp: ENSP00000400084.2:p.Met109Thr
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.326T>C
  hgvsp: ENSP00000370508.1:p.Met109Thr
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.326T>C
  hgvsp: ENSP00000384659.2:p.Met109Thr
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.493T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.586T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.497T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.326T>C
  hgvsp: ENSP00000370512.3:p.Met109Thr
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met109Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-28014262-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014262
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014262
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.538T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.324T>G
  hgvsp: ENST00000381116.1:c.324T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.324T>G
  hgvsp: ENST00000405591.2:c.324T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.443T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.324T>G
  hgvsp: ENST00000381120.3:c.324T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.584T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.541T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.324T>G
  hgvsp: ENST00000431572.2:c.324T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.491T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.495T>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu108Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

13-28014271-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014271
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014271
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.315G>C
  hgvsp: ENST00000431572.2:c.315G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.482G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.315G>C
  hgvsp: ENST00000405591.2:c.315G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.486G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.532G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.315G>C
  hgvsp: ENST00000381116.1:c.315G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.315G>C
  hgvsp: ENST00000381120.3:c.315G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.529G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.575G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.434G>C
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val105Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

13-28014274-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014274
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014274
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.529T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.312T>C
  hgvsp: ENST00000431572.2:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.572T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.312T>C
  hgvsp: ENST00000405591.2:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.431T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.479T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.312T>C
  hgvsp: ENST00000381116.1:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.526T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.312T>C
  hgvsp: ENST00000381120.3:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.483T>C
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn104Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

13-28014281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014281
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014281
    reference: chr 13
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.519G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.305G>A
  hgvsp: ENSP00000370508.1:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.476G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.305G>A
  hgvsp: ENSP00000384659.2:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.565G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.305G>A
  hgvsp: ENSP00000400084.2:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.522G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.424G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.305G>A
  hgvsp: ENSP00000370512.3:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.472G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53712
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg102Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/13-28014295-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014295
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014294
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.290delT
  hgvsp: ENSP00000400084.2:p.Leu97TrpfsTer9
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.409delT
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.290delT
  hgvsp: ENSP00000384659.2:p.Leu97TrpfsTer9
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.290delT
  hgvsp: ENSP00000370512.3:p.Leu97TrpfsTer9
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.290delT
  hgvsp: ENSP00000370508.1:p.Leu97TrpfsTer9
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.461delT
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.550delT
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.504delT
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.457delT
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.507delT
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu97TrpfsTer9
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: CA
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

13-28014322-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014322
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014322
    reference: chr 13
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.524C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.478C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.264C>G
  hgvsp: ENSP00000370508.1:p.His88Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.435C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.431C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.264C>G
  hgvsp: ENSP00000384659.2:p.His88Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.264C>G
  hgvsp: ENSP00000370512.3:p.His88Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.481C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.264C>G
  hgvsp: ENSP00000400084.2:p.His88Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.383C>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His88Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

13-28014323-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014323
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014323
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.263A>T
  hgvsp: ENSP00000370508.1:p.His88Leu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.263A>T
  hgvsp: ENSP00000400084.2:p.His88Leu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.480A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.477A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.263A>T
  hgvsp: ENSP00000370512.3:p.His88Leu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.434A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.263A>T
  hgvsp: ENSP00000384659.2:p.His88Leu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.523A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.430A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.382A>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His88Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

13-28014323-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014323
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014323
    reference: chr 13
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.477A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.434A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.480A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.523A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.263A>G
  hgvsp: ENSP00000370508.1:p.His88Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.263A>G
  hgvsp: ENSP00000400084.2:p.His88Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.263A>G
  hgvsp: ENSP00000370512.3:p.His88Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.430A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.382A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.263A>G
  hgvsp: ENSP00000384659.2:p.His88Arg
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His88Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

13-28014330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014330
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014330
    reference: chr 13
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.256G>A
  hgvsp: ENSP00000370508.1:p.Val86Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.516G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.256G>A
  hgvsp: ENSP00000370512.3:p.Val86Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.470G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.256G>A
  hgvsp: ENSP00000384659.2:p.Val86Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.423G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.427G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.473G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.256G>A
  hgvsp: ENSP00000400084.2:p.Val86Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.375G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val86Ile
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

13-28014332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014332
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014332
    reference: chr 13
allele count: 50
allele frequency: 4.118412599047823e-4
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.254G>A
  hgvsp: ENSP00000370512.3:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.514G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.425G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.254G>A
  hgvsp: ENSP00000384659.2:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.254G>A
  hgvsp: ENSP00000370508.1:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.468G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.254G>A
  hgvsp: ENSP00000400084.2:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.471G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.373G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.421G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg85Gln
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

13-28014333-GCTGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014333
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014329
    reference: chr 13
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.463_466delTCAG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.249_252delTCAG
  hgvsp: ENSP00000370512.3:p.Gln84GlufsTer21
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.249_252delTCAG
  hgvsp: ENSP00000400084.2:p.Gln84GlufsTer21
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.249_252delTCAG
  hgvsp: ENSP00000370508.1:p.Gln84GlufsTer21
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.249_252delTCAG
  hgvsp: ENSP00000384659.2:p.Gln84GlufsTer21
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.420_423delTCAG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.368_371delTCAG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.466_469delTCAG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.509_512delTCAG
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.416_419delTCAG
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln84GlufsTer21
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: GCTGA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

13-28014339-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014339
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014340
    reference: chr 13
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.413dupT
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.246dupT
  hgvsp: ENSP00000384659.2:p.Ser83Ter
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.246dupT
  hgvsp: ENSP00000370508.1:p.Ser83Ter
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.463dupT
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.246dupT
  hgvsp: ENSP00000370512.3:p.Ser83Ter
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.246dupT
  hgvsp: ENSP00000400084.2:p.Ser83Ter
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.365dupT
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.460dupT
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.506dupT
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.417dupT
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser83Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

13-28014354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014354
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014354
    reference: chr 13
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.362G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.449G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.232G>A
  hgvsp: ENSP00000370508.1:p.Val78Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.232G>A
  hgvsp: ENSP00000384659.2:p.Val78Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.232G>A
  hgvsp: ENSP00000400084.2:p.Val78Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.399G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.232G>A
  hgvsp: ENSP00000370512.3:p.Val78Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.446G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.351G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.492G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.403G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val78Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

13-28014355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014355
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014355
    reference: chr 13
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.491C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.361C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.231C>T
  hgvsp: ENST00000381116.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.231C>T
  hgvsp: ENST00000405591.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.350C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.231C>T
  hgvsp: ENST00000431572.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.231C>T
  hgvsp: ENST00000381120.3:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.448C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.445C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.402C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.398C>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn77Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

13-28014356-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014356
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014356
    reference: chr 13
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.360A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.401A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.444A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.230A>G
  hgvsp: ENSP00000400084.2:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.490A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.230A>G
  hgvsp: ENSP00000370508.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.230A>G
  hgvsp: ENSP00000384659.2:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.349A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.230A>G
  hgvsp: ENSP00000370512.3:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.447A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.397A>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn77Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

13-28014361-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014361
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014361
    reference: chr 13
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.485T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.355T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.225T>C
  hgvsp: ENST00000431572.2:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.396T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.442T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.225T>C
  hgvsp: ENST00000405591.2:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.225T>C
  hgvsp: ENST00000381116.1:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.344T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.439T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.225T>C
  hgvsp: ENST00000381120.3:c.225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.392T>C
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe75Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

13-28014383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014383
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014383
    reference: chr 13
allele count: 163
allele frequency: 1.342713104220897e-3
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.203C>T
  hgvsp: ENSP00000370512.3:p.Thr68Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.370C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.374C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.417C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.420C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.203C>T
  hgvsp: ENSP00000400084.2:p.Thr68Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.463C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.203C>T
  hgvsp: ENSP00000384659.2:p.Thr68Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.203C>T
  hgvsp: ENSP00000370508.1:p.Thr68Ile
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.333C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.322C>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Thr68Ile
num of homozygotes: 3
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

13-28014384-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014384
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014384
    reference: chr 13
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.202A>T
  hgvsp: ENSP00000400084.2:p.Thr68Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.202A>T
  hgvsp: ENSP00000370512.3:p.Thr68Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.332A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.369A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.462A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.202A>T
  hgvsp: ENSP00000370508.1:p.Thr68Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.321A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.416A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.202A>T
  hgvsp: ENSP00000384659.2:p.Thr68Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.373A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.419A>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr68Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

13-28014389-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014389
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014389
    reference: chr 13
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.414A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.457A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.316A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.197A>G
  hgvsp: ENSP00000384659.2:p.Lys66Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.364A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.197A>G
  hgvsp: ENSP00000370508.1:p.Lys66Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.411A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.197A>G
  hgvsp: ENSP00000400084.2:p.Lys66Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.197A>G
  hgvsp: ENSP00000370512.3:p.Lys66Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.327A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.368A>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys66Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

13-28014409-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014409
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014409
    reference: chr 13
allele count: 7
allele frequency: 5.766062602965403e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.394A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.391A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.177A>G
  hgvsp: ENST00000431572.2:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.177A>G
  hgvsp: ENST00000405591.2:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.348A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.437A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.344A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.177A>G
  hgvsp: ENST00000381120.3:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.296A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.177A>G
  hgvsp: ENST00000381116.1:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.307A>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Glu59Glu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

13-28014414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014414
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014414
    reference: chr 13
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.386G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.302G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.172G>A
  hgvsp: ENSP00000370512.3:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.432G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.389G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.402G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.172G>A
  hgvsp: ENSP00000400084.2:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.172G>A
  hgvsp: ENSP00000384659.2:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.291G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.343G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.172G>A
  hgvsp: ENSP00000370508.1:p.Ala58Thr
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.339G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala58Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

13-28014415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014415
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014415
    reference: chr 13
allele count: 8
allele frequency: 6.589894396942289e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.171C>T
  hgvsp: ENST00000381120.3:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.401C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.342C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.171C>T
  hgvsp: ENST00000431572.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.171C>T
  hgvsp: ENST00000405591.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.385C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.171C>T
  hgvsp: ENST00000381116.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.290C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.431C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.301C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.388C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.338C>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr57Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

13-28014417-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014417
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014417
    reference: chr 13
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.336A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.169A>T
  hgvsp: ENSP00000400084.2:p.Thr57Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.386A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.429A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.169A>T
  hgvsp: ENSP00000370512.3:p.Thr57Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.383A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.299A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.169A>T
  hgvsp: ENSP00000370508.1:p.Thr57Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.169A>T
  hgvsp: ENSP00000384659.2:p.Thr57Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.288A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.340A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.399A>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr57Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

13-28014419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014419
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014419
    reference: chr 13
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.427G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.384G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.381G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.167G>A
  hgvsp: ENSP00000370508.1:p.Ser56Asn
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.167G>A
  hgvsp: ENSP00000384659.2:p.Ser56Asn
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.397G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.334G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.286G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.167G>A
  hgvsp: ENSP00000400084.2:p.Ser56Asn
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.167G>A
  hgvsp: ENSP00000370512.3:p.Ser56Asn
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.295G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.297G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.338G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser56Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

13-28014424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014424
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014424
    reference: chr 13
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.162C>T
  hgvsp: ENST00000381120.3:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.392C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.376C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.292C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.281C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.422C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.162C>T
  hgvsp: ENST00000405591.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.162C>T
  hgvsp: ENST00000431572.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.329C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.290C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.162C>T
  hgvsp: ENST00000381116.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.333C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.379C>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala54Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

13-28014425-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014425
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014425
    reference: chr 13
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.161C>G
  hgvsp: ENSP00000384659.2:p.Ala54Gly
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.332C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.161C>G
  hgvsp: ENSP00000400084.2:p.Ala54Gly
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.375C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.289C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.161C>G
  hgvsp: ENSP00000370508.1:p.Ala54Gly
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.328C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.421C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.280C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.161C>G
  hgvsp: ENSP00000370512.3:p.Ala54Gly
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.378C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.391C>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.291C>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala54Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

13-28014429-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014429
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014429
    reference: chr 13
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.387A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.328A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.285A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.371A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.157A>G
  hgvsp: ENSP00000400084.2:p.Lys53Glu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.374A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.157A>G
  hgvsp: ENSP00000370508.1:p.Lys53Glu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.324A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.157A>G
  hgvsp: ENSP00000384659.2:p.Lys53Glu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.157A>G
  hgvsp: ENSP00000370512.3:p.Lys53Glu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.287A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.417A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.276A>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys53Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/13-28014433-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014433
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014433
    reference: chr 13
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.153T>G
  hgvsp: ENSP00000384659.2:p.His51Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.320T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.153T>G
  hgvsp: ENSP00000370512.3:p.His51Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.324T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.367T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.283T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.153T>G
  hgvsp: ENSP00000400084.2:p.His51Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.153T>G
  hgvsp: ENSP00000370508.1:p.His51Gln
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.383T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.413T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.281T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.370T>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.272T>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His51Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

13-28014433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014433
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014433
    reference: chr 13
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.153T>C
  hgvsp: ENST00000405591.2:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.153T>C
  hgvsp: ENST00000381116.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.413T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.283T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.320T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.383T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.153T>C
  hgvsp: ENST00000381120.3:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.370T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.153T>C
  hgvsp: ENST00000431572.2:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.272T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.367T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.324T>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.281T>C
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His51His
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: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

13-28014434-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014434
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014434
    reference: chr 13
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.382A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.366A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.282A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.152A>G
  hgvsp: ENSP00000370512.3:p.His51Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.152A>G
  hgvsp: ENSP00000400084.2:p.His51Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.152A>G
  hgvsp: ENSP00000384659.2:p.His51Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.152A>G
  hgvsp: ENSP00000370508.1:p.His51Arg
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.323A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.271A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.280A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.369A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.319A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.412A>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His51Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

13-28014445-G-GGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014445
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014447
    reference: chr 13
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: GGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.399_400dupTC
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.310_311dupTC
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.139_140dupTC
  hgvsp: ENSP00000370512.3:p.Phe48ProfsTer3
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.258_259dupTC
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.139_140dupTC
  hgvsp: ENSP00000370508.1:p.Phe48ProfsTer3
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.356_357dupTC
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.139_140dupTC
  hgvsp: ENSP00000384659.2:p.Phe48ProfsTer3
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.139_140dupTC
  hgvsp: ENSP00000400084.2:p.Phe48ProfsTer3
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.267_268dupTC
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.306_307dupTC
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.369_370dupTC
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.353_354dupTC
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.269_270dupTC
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe48ProfsTer3
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-28014459-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014459
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014459
    reference: chr 13
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.127G>T
  hgvsp: ENSP00000370508.1:p.Ala43Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.357G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.127G>T
  hgvsp: ENSP00000400084.2:p.Ala43Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.127G>T
  hgvsp: ENSP00000370512.3:p.Ala43Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.246G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.341G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.298G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.344G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.294G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.127G>T
  hgvsp: ENSP00000384659.2:p.Ala43Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.257G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.387G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.255G>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala43Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

13-28014461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014461
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014461
    reference: chr 13
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.125C>T
  hgvsp: ENSP00000400084.2:p.Ser42Phe
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.296C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.385C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.125C>T
  hgvsp: ENSP00000370512.3:p.Ser42Phe
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.253C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.125C>T
  hgvsp: ENSP00000370508.1:p.Ser42Phe
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.255C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.125C>T
  hgvsp: ENSP00000384659.2:p.Ser42Phe
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.244C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.339C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.292C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.342C>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.355C>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser42Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

13-28014465-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014465
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014465
    reference: chr 13
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.351G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.121G>C
  hgvsp: ENSP00000400084.2:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.121G>C
  hgvsp: ENSP00000384659.2:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.251G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.249G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.381G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.240G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.121G>C
  hgvsp: ENSP00000370508.1:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.288G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.121G>C
  hgvsp: ENSP00000370512.3:p.Ala41Pro
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.338G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.292G>C
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.335G>C
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala41Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

13-28014468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014468
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014468
    reference: chr 13
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.335A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.118A>G
  hgvsp: ENSP00000400084.2:p.Ile40Val
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.285A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.118A>G
  hgvsp: ENSP00000384659.2:p.Ile40Val
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.289A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.118A>G
  hgvsp: ENSP00000370508.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.118A>G
  hgvsp: ENSP00000370512.3:p.Ile40Val
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.237A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.246A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.332A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.378A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.248A>G
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.348A>G
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile40Val
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-28014483-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014483
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014483
    reference: chr 13
allele count: 5
allele frequency: 4.119430529923544e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.333G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.233G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.103G>T
  hgvsp: ENSP00000370512.3:p.Ala35Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.363G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.270G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.317G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.222G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.103G>T
  hgvsp: ENSP00000384659.2:p.Ala35Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.103G>T
  hgvsp: ENSP00000400084.2:p.Ala35Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.103G>T
  hgvsp: ENSP00000370508.1:p.Ala35Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.320G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.231G>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.274G>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala35Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

13-28014506-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014506
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014506
    reference: chr 13
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.80A>T
  hgvsp: ENSP00000370508.1:p.His27Leu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.199A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.310A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.297A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.80A>T
  hgvsp: ENSP00000400084.2:p.His27Leu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.80A>T
  hgvsp: ENSP00000370512.3:p.His27Leu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.340A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.80A>T
  hgvsp: ENSP00000384659.2:p.His27Leu
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.247A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.210A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.294A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.251A>T
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.208A>T
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His27Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

13-28014513-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28014513
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 28014513
    reference: chr 13
allele count: 2
allele frequency: 1.660164356271271e-5
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000493719
  gene symbol: MTIF3
  hgvsc: ENST00000493719.1:n.244G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485650
  gene symbol: MTIF3
  hgvsc: ENST00000485650.1:n.287G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370508
  ensembl transcript: ENST00000381116
  gene symbol: MTIF3
  hgvsc: ENST00000381116.1:c.73G>A
  hgvsp: ENSP00000370508.1:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000464753
  gene symbol: MTIF3
  hgvsc: ENST00000464753.1:n.201G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000400084
  ensembl transcript: ENST00000431572
  gene symbol: MTIF3
  hgvsc: ENST00000431572.2:c.73G>A
  hgvsp: ENSP00000400084.2:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000471771
  gene symbol: MTIF3
  hgvsc: ENST00000471771.1:n.333G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000384659
  ensembl transcript: ENST00000405591
  gene symbol: MTIF3
  hgvsc: ENST00000405591.2:c.73G>A
  hgvsp: ENSP00000384659.2:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122033
  ensembl protein: ENSP00000370512
  ensembl transcript: ENST00000381120
  gene symbol: MTIF3
  hgvsc: ENST00000381120.3:c.73G>A
  hgvsp: ENSP00000370512.3:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000483903
  gene symbol: MTIF3
  hgvsc: ENST00000483903.1:n.303G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000485959
  gene symbol: MTIF3
  hgvsc: ENST00000485959.1:n.290G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000460973
  gene symbol: MTIF3
  hgvsc: ENST00000460973.1:n.240G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000484342
  gene symbol: MTIF3
  hgvsc: ENST00000484342.2:n.203G>A
  variant of: http://identifiers.org/hgnc/29788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122033
  ensembl transcript: ENST00000461838
  gene symbol: MTIF3
  hgvsc: ENST00000461838.1:n.192G>A
  variant of: http://identifiers.org/hgnc/29788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly25Ser
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 537
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4742
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.405329233922624e-5
allele num: 15612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.732e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

MQ
type: SiteQuality
SIO_000300: 5.991e1

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

FS
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.721273e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.413e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.567e0

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5365
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6526
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2295
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169317118802619e-4
allele num: 8552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

DP
type: SiteQuality
SIO_000300: 1.695638e6

MQ
type: SiteQuality
SIO_000300: 5.918e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.75e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

GenotypeQuality
all individuals: 871
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4737
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5864
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536098310291859e-5
allele num: 65100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

DP
type: SiteQuality
SIO_000300: 1.651581e6

QD
type: SiteQuality
SIO_000300: 1.408e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeQuality
all individuals: 2966
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5066
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3770
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15390
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.873617693522907e-5
allele num: 10128
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.506e-1

DP
type: SiteQuality
SIO_000300: 1.633821e6

FS
type: SiteQuality
SIO_000300: 3.434e0

MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.597e0

QD
type: SiteQuality
SIO_000300: 1.653e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
all individuals: 22431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
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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variant carriers: 0

East Asian
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allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.948051948051948e-4
allele num: 15400
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
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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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 64912
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
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allele frequency: 9.897070467141726e-5
allele num: 10104
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8546
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Latino
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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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BaseQRankSum
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SIO_000300: -2.507e0

VQSLOD
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FS
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MQ
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DP
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 64760
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11322
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East Asian
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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MQ
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 15070
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.555306706482518e-5
allele num: 64296
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e0

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.553086e6

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.067e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64508
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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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African
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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
allele num: 866
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.855827134254339e-5
allele num: 11292
num of homozygotes: 0

MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
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SIO_000300: 4.01e-1

ReadPosRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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Other
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 1.096972356296621e-4
allele num: 63812
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 7630
num of homozygotes: 0

South Asian
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European (Finnish)
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Other
type: Population
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African
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European (Non-Finnish)
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Latino
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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MQ
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
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DP
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

Latino
type: Population
allele count: 24
allele frequency: 2.270577105014191e-3
allele num: 10570
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 278
allele frequency: 4.510936587265529e-3
allele num: 61628
num of homozygotes: 1

South Asian
type: Population
allele count: 10
allele frequency: 6.652474720596061e-4
allele num: 15032
num of homozygotes: 1

European (Finnish)
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allele count: 18
allele frequency: 2.921129503407984e-3
allele num: 6162
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.116207951070336e-4
allele num: 9810
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.739336492890996e-3
allele num: 844
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

QD
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SIO_000300: 1.308e1

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -2.383e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.281469e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66230
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.220852154804053e-4
allele num: 16382
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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African
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ClippingRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.764e0

MQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

DP
type: SiteQuality
SIO_000300: 1.464402e6

QD
type: SiteQuality
SIO_000300: 1.05e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 22

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.008893161879582e-5
allele num: 66568
num of homozygotes: 0

East Asian
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allele count: 12
allele frequency: 1.387925052047189e-3
allele num: 8646
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.639893229798593e-4
allele num: 16484
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.68e-2

QD
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SIO_000300: 1.447e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.758e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.85579332947754e-4
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

QD
type: SiteQuality
SIO_000300: 1.491e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.374e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.69e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 22
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.24345295829292e-4
allele num: 16496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.369e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.478089e6

FS
type: SiteQuality
SIO_000300: 8.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

VQSLOD
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SIO_000300: 2.78e0

MQRankSum
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SIO_000300: 7.5e-2

BaseQRankSum
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SIO_000300: -2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 11562
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Other
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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FS
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: 6.78e-1

DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 65
allele frequency: 9.743374505336371e-4
allele num: 66712
num of homozygotes: 0

African
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allele count: 4
allele frequency: 3.847633705271258e-4
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.815980629539952e-3
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
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Other
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allele count: 4
allele frequency: 4.415011037527594e-3
allele num: 906
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QD
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SIO_000300: 1.392e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 55
allele frequency: 4.753673292999135e-3
allele num: 11570
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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South Asian
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allele count: 12
allele frequency: 7.26832222895215e-4
allele num: 16510
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African
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allele count: 20
allele frequency: 1.92270717169775e-3
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European (Finnish)
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allele count: 79
allele frequency: 1.195158850226929e-2
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 818
allele frequency: 1.225908941042472e-2
allele num: 66726
num of homozygotes: 10

Other
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allele num: 906
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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QD
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MQRankSum
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SIO_000300: 2.24e-1

ReadPosRankSum
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FS
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SIO_000300: 0.0e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Other
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 1.498531439189594e-5
allele num: 66732
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Other
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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Latino
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Other
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FS
type: SiteQuality
SIO_000300: 3.17e0

MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
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num of homozygotes: 0

South Asian
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allele num: 16512
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European (Non-Finnish)
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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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FS
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ReadPosRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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Other
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European (Non-Finnish)
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Latino
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African
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66738
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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InbreedingCoeff
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FS
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DP
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VQSLOD
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QD
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MQ
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ReadPosRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.99e1

FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
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East Asian
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African
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ClippingRankSum
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SIO_000300: 1.16e0

InbreedingCoeff
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MQRankSum
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FS
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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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: 50

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.122819139747797e-3
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

East Asian
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allele frequency: 3.813265541945921e-3
allele num: 8654
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African
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allele num: 10404
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
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SIO_000300: 2.4e0

ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66736
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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Other
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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MQ
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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European (Non-Finnish)
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allele num: 66736
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African
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Latino
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Other
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South Asian
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DP
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FS
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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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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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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South Asian
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InbreedingCoeff
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FS
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MQ
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele num: 6614
num of homozygotes: 0

South 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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allele num: 66736
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East Asian
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DP
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FS
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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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
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

VQSLOD
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SIO_000300: 1.33e0

MQRankSum
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SIO_000300: 2.5e-1

QD
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BaseQRankSum
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SIO_000300: 4.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.03e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.144e0

DP
type: SiteQuality
SIO_000300: 1.484739e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: -2.129e0

InbreedingCoeff
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SIO_000300: -4.0e-4

BaseQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.623e1

MQRankSum
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SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

FS
type: SiteQuality
SIO_000300: 9.02e-1

ClippingRankSum
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SIO_000300: -1.16e0

QD
type: SiteQuality
SIO_000300: 1.027e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 160

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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

African
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allele count: 152
allele frequency: 1.462100808003078e-2
allele num: 10396
num of homozygotes: 3

Latino
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allele frequency: 6.045949214026602e-4
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.993946114424431e-5
allele num: 66734
num of homozygotes: 0

MQRankSum
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MQ
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SIO_000300: 5.973e1

ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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SIO_000300: 5.2e-1

ReadPosRankSum
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BaseQRankSum
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QD
type: SiteQuality
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DP
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SIO_000300: 1.501163e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

African
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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
allele num: 908
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.829e0

VQSLOD
type: SiteQuality
SIO_000300: 9.4e-2

BaseQRankSum
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SIO_000300: 8.68e-1

MQ
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SIO_000300: 5.976e1

ClippingRankSum
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SIO_000300: -7.04e-1

MQRankSum
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SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.002e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.54e-1

DP
type: SiteQuality
SIO_000300: 1.484843e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

East Asian
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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

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
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SIO_000300: -2.85e-1

FS
type: SiteQuality
SIO_000300: 1.0489e1

InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

Latino
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allele frequency: 5.182242183451373e-4
allele num: 11578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

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

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: 3

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

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

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
all individuals: 13
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GenotypeQuality
all individuals: 599
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Other
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East Asian
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African
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European (Non-Finnish)
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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FS
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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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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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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African
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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MQ
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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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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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FS
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DP
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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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Latino
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East Asian
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South Asian
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African
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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VQSLOD
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QD
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DP
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ReadPosRankSum
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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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European (Finnish)
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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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MQRankSum
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DP
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MQ
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FS
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BaseQRankSum
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VQSLOD
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African
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VQSLOD
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MQ
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MQRankSum
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GenotypeQuality
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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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African
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Latino
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East Asian
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European (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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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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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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East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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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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allele num: 66738
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Latino
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African
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European (Finnish)
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South Asian
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Other
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East Asian
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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DP
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QD
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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African
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European (Non-Finnish)
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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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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DP
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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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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Latino
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South Asian
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African
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East Asian
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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QD
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GenotypeQuality
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South Asian
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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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Latino
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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variant carriers: 0

GenotypeQuality
all individuals: 53768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 4.011e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.823e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.485609e6

QD
type: SiteQuality
SIO_000300: 1.336e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

GenotypeDepth
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 358
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53328
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 227
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 1.154e0

DP
type: SiteQuality
SIO_000300: 1.481781e6

MQRankSum
type: SiteQuality
SIO_000300: 7.53e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

GenotypeDepth
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0